#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
SLC2A5	6518	broad.mit.edu	37	1	9101954	9101954	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:9101954G>A	ENST00000377424.4	-	5	640	c.461C>T	c.(460-462)gCc>gTc	p.A154V	SLC2A5_ENST00000377414.3_Missense_Mutation_p.A154V|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A95V|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A39V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	154					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.A154V(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTTAGGGGCCAGCTCCCC	0.537																																						uc001apo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)|ovary(1)	3						c.(460-462)GCC>GTC		solute carrier family 2 (facilitated							28.0	29.0	29.0					1																	9101954		2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9101954G>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.461C>T	1.37:g.9101954G>A	ENSP00000366641:p.Ala154Val					SLC2A5_uc010nzy.1_Missense_Mutation_p.A95V|SLC2A5_uc010nzz.1_Missense_Mutation_p.A39V|SLC2A5_uc010oaa.1_Missense_Mutation_p.A110V|SLC2A5_uc010oab.1_Missense_Mutation_p.A154V|SLC2A5_uc010oac.1_Silent_p.G112G|SLC2A5_uc001app.3_Missense_Mutation_p.A154V	p.A154V	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	753	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	154			Cytoplasmic (Potential).		Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.461C>T	CCDS99.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740688	0.96873	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586;ENST00000377414	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.273076	0.42682	D	0.000667	D	0.93061	0.7791	M	0.84846	2.72	0.54753	D	0.999984	D;D;D;D	0.71674	0.992;0.992;0.998;0.986	D;D;D;D	0.70227	0.957;0.968;0.957;0.938	D	0.93717	0.7029	10	0.87932	D	0	.	18.3241	0.90247	0.0:0.0:1.0:0.0	.	110;95;154;154	B4DG19;B4DU31;P22732-2;P22732	.;.;.;GTR5_HUMAN	V	154;137;95;39;154	ENSP00000366641:A154V;ENSP00000440688:A95V;ENSP00000442744:A39V;ENSP00000366631:A154V	ENSP00000366631:A154V	A	-	2	0	SLC2A5	9024541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.133000	0.94460	2.731000	0.93534	0.650000	0.86243	GCC		0.537	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1		NM_003039		5	16	0	0	0	0.001168	0	5	16		
TMEM54	113452	broad.mit.edu	37	1	33363895	33363895	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:33363895C>G	ENST00000373463.3	-	2	161	c.42G>C	c.(40-42)cgG>cgC	p.R14R	TMEM54_ENST00000329151.5_Silent_p.R14R|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	14						integral component of membrane (GO:0016021)		p.R14R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGCACCTTCCGGAAGTCGC	0.632																																						uc001bwi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(40-42)CGG>CGC		transmembrane protein 54							82.0	74.0	76.0					1																	33363895		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33363895C>G		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.42G>C	1.37:g.33363895C>G						TMEM54_uc001bwj.1_Silent_p.R14R|TMEM54_uc001bwk.1_Silent_p.R14R	p.R14R	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			2	156	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	14					Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.42G>C	CCDS371.1																																																																																				0.632	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1		NM_033504		7	45	0	0	0	0.001984	0	7	45		
RLF	6018	broad.mit.edu	37	1	40697236	40697236	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40697236C>G	ENST00000372771.4	+	7	1022	c.995C>G	c.(994-996)tCt>tGt	p.S332C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	332					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S332C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATTGACCCTTCTTTAGATACT	0.358																																						uc001cfc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(994-996)TCT>TGT		rearranged L-myc fusion							109.0	108.0	108.0					1																	40697236		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40697236C>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.995C>G	1.37:g.40697236C>G	ENSP00000361857:p.Ser332Cys					RLF_uc001cfd.3_Missense_Mutation_p.S23C	p.S332C	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		7	1026	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	332					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.995C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127937	0.77549	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.45276	0.9	5.89	5.89	0.94794	.	0.101961	0.64402	D	0.000001	T	0.67859	0.2938	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.87578	0.703;0.998	T	0.69057	-0.5246	10	0.87932	D	0	-13.9593	20.2576	0.98430	0.0:1.0:0.0:0.0	.	25;332	F5H2M5;Q13129	.;RLF_HUMAN	C	332;25	ENSP00000361857:S332C	ENSP00000361857:S332C	S	+	2	0	RLF	40469823	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.696000	0.68287	2.783000	0.95769	0.655000	0.94253	TCT		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421		19	151	0	0	0	0.010504	0	19	151		
EXO5	64789	broad.mit.edu	37	1	40981078	40981078	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:40981078G>T	ENST00000372703.1	+	2	1936	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.D288Y|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.D288Y			Q9H790	EXO5_HUMAN	exonuclease 5	288					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.D288Y(1)									CCCAGTTATTGATATCTTGAA	0.493																																						uc001cfp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(862-864)GAT>TAT		defects in morphology 1 homolog							172.0	160.0	164.0					1																	40981078		2203	4300	6503	SO:0001583	missense	64789						DNA binding|exonuclease activity	g.chr1:40981078G>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.862G>T	1.37:g.40981078G>T	ENSP00000361788:p.Asp288Tyr					DEM1_uc001cfq.2_Missense_Mutation_p.D288Y|DEM1_uc001cfr.2_Missense_Mutation_p.D288Y|DEM1_uc001cfs.2_Missense_Mutation_p.D288Y	p.D288Y	NM_022774	NP_073611	Q9H790	EXO5_HUMAN			3	1067	+			288					D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.862G>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548987	0.65311	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.32023	1.47;1.47;1.47	4.89	4.89	0.63831	.	0.000000	0.56097	D	0.000030	T	0.54919	0.1888	M	0.75264	2.295	0.51012	D	0.999908	D	0.89917	1.0	D	0.91635	0.999	T	0.57382	-0.7821	10	0.72032	D	0.01	-8.3459	13.7693	0.63015	0.0:0.0:1.0:0.0	.	288	Q9H790	EXO5_HUMAN	Y	288	ENSP00000351328:D288Y;ENSP00000361788:D288Y;ENSP00000296380:D288Y	ENSP00000296380:D288Y	D	+	1	0	DEM1	40753665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.826000	0.69293	2.720000	0.93068	0.650000	0.86243	GAT		0.493	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1		NM_022774		16	362	1	0	1.01871e-10	0.008871	1.11764e-10	16	362		
TIE1	7075	broad.mit.edu	37	1	43782984	43782984	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:43782984G>C	ENST00000372476.3	+	15	2603	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	TIE1_ENST00000433781.2_Missense_Mutation_p.E487Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E842K(1)|p.E842Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATCACCTTTGAGGACCTCAT	0.587																																						uc001ciu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|skin(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2524-2526)GAG>CAG		tyrosine kinase with immunoglobulin-like and							93.0	89.0	90.0					1																	43782984		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43782984G>C	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2524G>C	1.37:g.43782984G>C	ENSP00000361554:p.Glu842Gln					TIE1_uc010oke.1_Missense_Mutation_p.E797Q|TIE1_uc009vwq.2_Missense_Mutation_p.E798Q|TIE1_uc010okg.1_Missense_Mutation_p.E487Q	p.E842Q	NM_005424	NP_005415	P35590	TIE1_HUMAN			15	2603	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	842			Cytoplasmic (Potential).|Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2524G>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235220	0.58886	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.69561	-0.41;-0.41	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38720	N	0.001598	T	0.69753	0.3146	N	0.16790	0.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67409	-0.5678	10	0.21540	T	0.41	.	18.518	0.90942	0.0:0.0:1.0:0.0	.	797;487;842	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Q	842;245;125;487	ENSP00000361554:E842Q;ENSP00000411728:E487Q	ENSP00000361553:E245Q	E	+	1	0	TIE1	43555571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.362000	0.80069	0.650000	0.86243	GAG		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1		NM_005424		14	162	0	0	0	0.00499	0	14	162		
SLC6A9	6536	broad.mit.edu	37	1	44474198	44474198	+	Silent	SNP	C	C	T	rs144161106		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:44474198C>T	ENST00000360584.2	-	5	827	c.636G>A	c.(634-636)acG>acA	p.T212T	SLC6A9_ENST00000475075.2_Silent_p.T28T|SLC6A9_ENST00000537678.1_Silent_p.T74T|SLC6A9_ENST00000357730.2_Silent_p.T158T|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372310.3_Silent_p.T139T|SLC6A9_ENST00000372307.3_Silent_p.T74T|SLC6A9_ENST00000372306.3_Silent_p.T139T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	212					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T212T(1)|p.T139T(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCAGCACGTGCGTCATGGACG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18044	0.001		0.0	False		,,,				2504	0.0					uc001cll.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(634-636)ACG>ACA		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)	C	,,	0,4406		0,0,2203	125.0	99.0	108.0		417,474,636	-8.5	0.0	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	139/634,158/653,212/707	44474198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474198C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.636G>A	1.37:g.44474198C>T						SLC6A9_uc009vxe.2_Silent_p.T68T|SLC6A9_uc010okm.1_Silent_p.T139T|SLC6A9_uc001clm.2_Silent_p.T158T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.T143T|SLC6A9_uc001cln.2_Silent_p.T139T|SLC6A9_uc010oko.1_Silent_p.T28T|SLC6A9_uc010okp.1_RNA	p.T212T	NM_201649	NP_964012	P48067	SC6A9_HUMAN			5	828	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	212			Extracellular (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.636G>A	CCDS41317.1																																																																																				0.572	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		NM_201649		4	114	0	0	0	0.009096	0	4	114		
COA7	65260	broad.mit.edu	37	1	53153747	53153747	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:53153747A>G	ENST00000371538.3	-	3	380	c.341T>C	c.(340-342)gTt>gCt	p.V114A	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2												p.V114A(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						CAGGAGGCCAACGTTGTGACA	0.542																																						uc001cui.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(340-342)GTT>GCT		hypothetical protein LOC65260							112.0	90.0	98.0					1																	53153747		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53153747A>G																												ENST00000371538.3:c.341T>C	1.37:g.53153747A>G	ENSP00000360593:p.Val114Ala						p.V114A	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			3	381	-			114			Sel1-like 3.			Missense_Mutation	SNP	ENST00000371538.3	37	c.341T>C	CCDS570.1	.	.	.	.	.	.	.	.	.	.	A	8.249	0.808675	0.16467	.	.	ENSG00000162377	ENST00000371538	T	0.51071	0.72	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.053817	0.64402	D	0.000001	T	0.43255	0.1239	L	0.56769	1.78	0.58432	D	0.999996	B	0.11235	0.004	B	0.15052	0.012	T	0.33085	-0.9882	10	0.33940	T	0.23	-5.9603	10.18	0.42961	0.882:0.0:0.118:0.0	.	114	Q96BR5	SELR1_HUMAN	A	114	ENSP00000360593:V114A	ENSP00000360593:V114A	V	-	2	0	SELRC1	52926335	1.000000	0.71417	0.996000	0.52242	0.416000	0.31233	4.953000	0.63624	2.199000	0.70637	0.449000	0.29647	GTT		0.542	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1				5	98	0	0	0	0.000602	0	5	98		
YIPF1	54432	broad.mit.edu	37	1	54343992	54343992	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:54343992G>T	ENST00000072644.1	-	6	696	c.360C>A	c.(358-360)ctC>ctA	p.L120L	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Silent_p.L145L	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	120						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.L120L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ACATACCATAGAGATCTGGAT	0.423																																						uc001cvu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(358-360)CTC>CTA		Yip1 domain family, member 1							139.0	145.0	143.0					1																	54343992		2203	4300	6503	SO:0001819	synonymous_variant	54432					integral to membrane|transport vesicle		g.chr1:54343992G>T	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.360C>A	1.37:g.54343992G>T						YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	p.L120L	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN			6	697	-			120			Helical; (Potential).		B2RCM7|D3DQ40|Q9NWJ1	Silent	SNP	ENST00000072644.1	37	c.360C>A	CCDS584.1																																																																																				0.423	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5		NM_018982		5	172	1	0	1.024e-07	0.000602	1.10034e-07	5	172		
PPAP2B	8613	broad.mit.edu	37	1	56990007	56990007	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990007C>T	ENST00000371250.3	-	3	1068	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	173					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.E173K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGTAGCCTTCAGAGCAGTTG	0.537																																						uc001cyj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(517-519)GAA>AAA		phosphatidic acid phosphatase type 2B							145.0	142.0	143.0					1																	56990007		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56990007C>T	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.517G>A	1.37:g.56990007C>T	ENSP00000360296:p.Glu173Lys						p.E173K	NM_177414	NP_803133	O14495	LPP3_HUMAN			4	1018	-			173			Lumenal (Potential).		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.517G>A	CCDS604.1	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486380	0.12641	.	.	ENSG00000162407	ENST00000371250	T	0.74737	-0.87	5.7	2.82	0.32997	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.657749	0.15276	N	0.270980	T	0.47801	0.1465	N	0.16567	0.415	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30060	-0.9991	10	0.06757	T	0.87	.	1.1	0.01682	0.1572:0.4144:0.1911:0.2374	.	173	O14495	LPP3_HUMAN	K	173	ENSP00000360296:E173K	ENSP00000360296:E173K	E	-	1	0	PPAP2B	56762595	0.037000	0.19845	0.975000	0.42487	0.973000	0.67179	0.461000	0.21940	0.748000	0.32831	0.655000	0.94253	GAA		0.537	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2		NM_003713		44	132	0	0	0	0.002522	0	44	132		
PPAP2B	8613	broad.mit.edu	37	1	56990203	56990203	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:56990203C>T	ENST00000371250.3	-	3	872	c.321G>A	c.(319-321)cgG>cgA	p.R107R		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	107					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.R107R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGTAATAGATCCGGTAGAATT	0.483																																						uc001cyj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(319-321)CGG>CGA		phosphatidic acid phosphatase type 2B							62.0	64.0	63.0					1																	56990203		2203	4300	6503	SO:0001819	synonymous_variant	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56990203C>T	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.321G>A	1.37:g.56990203C>T							p.R107R	NM_177414	NP_803133	O14495	LPP3_HUMAN			4	822	-			107			Cytoplasmic (Potential).		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Silent	SNP	ENST00000371250.3	37	c.321G>A	CCDS604.1																																																																																				0.483	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2		NM_003713		20	78	0	0	0	0.002299	0	20	78		
DAB1	1600	broad.mit.edu	37	1	57480619	57480619	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480619C>A	ENST00000371231.1	-	13	1514	c.1480G>T	c.(1480-1482)Gac>Tac	p.D494Y	DAB1_ENST00000414851.2_Missense_Mutation_p.D443Y|DAB1_ENST00000420954.2_Missense_Mutation_p.D459Y|DAB1_ENST00000439789.2_Missense_Mutation_p.D375Y|DAB1_ENST00000371234.4_Missense_Mutation_p.D461Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.D461Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	494					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.D461Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATGTCAAAGTCATCACAGTCG	0.522																																						uc001cys.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1381-1383)GAC>TAC		disabled homolog 1							92.0	86.0	88.0					1																	57480619		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480619C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1480G>T	1.37:g.57480619C>A	ENSP00000360275:p.Asp494Tyr					DAB1_uc001cyt.1_Missense_Mutation_p.D459Y|DAB1_uc001cyq.1_Missense_Mutation_p.D459Y|DAB1_uc001cyr.1_Missense_Mutation_p.D375Y|DAB1_uc009vzw.1_Missense_Mutation_p.D443Y|DAB1_uc009vzx.1_Missense_Mutation_p.D461Y	p.D461Y	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	2055	-			494					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1381G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.381088	0.82792	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.73575	-0.75;-0.75;-0.72;-0.76;0.38;-0.63	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.99;0.994;0.999;0.994	D	0.87206	0.2244	10	0.87932	D	0	-29.1668	19.6787	0.95950	0.0:1.0:0.0:0.0	.	443;494;461;375;459	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	Y	461;461;461;459;443;375;494	ENSP00000360280:D461Y;ENSP00000360278:D461Y;ENSP00000395296:D459Y;ENSP00000387581:D443Y;ENSP00000409328:D375Y;ENSP00000360275:D494Y	ENSP00000360275:D494Y	D	-	1	0	DAB1	57253207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	GAC		0.522	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		12	69	1	0	2.27111e-07	0.001368	2.41558e-07	12	69		
DAB1	1600	broad.mit.edu	37	1	57480687	57480687	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480687C>G	ENST00000371231.1	-	13	1446	c.1412G>C	c.(1411-1413)tGt>tCt	p.C471S	DAB1_ENST00000414851.2_Missense_Mutation_p.C420S|DAB1_ENST00000420954.2_Missense_Mutation_p.C436S|DAB1_ENST00000439789.2_Missense_Mutation_p.C352S|DAB1_ENST00000371234.4_Missense_Mutation_p.C438S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.C438S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	471					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.C438S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCTGAGGTACAGGTGAGGGA	0.547																																						uc001cys.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1312-1314)TGT>TCT		disabled homolog 1							69.0	72.0	71.0					1																	57480687		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480687C>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1412G>C	1.37:g.57480687C>G	ENSP00000360275:p.Cys471Ser					DAB1_uc001cyt.1_Missense_Mutation_p.C436S|DAB1_uc001cyq.1_Missense_Mutation_p.C436S|DAB1_uc001cyr.1_Missense_Mutation_p.C352S|DAB1_uc009vzw.1_Missense_Mutation_p.C420S|DAB1_uc009vzx.1_Missense_Mutation_p.C438S	p.C438S	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1987	-			471					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1313G>C		.	.	.	.	.	.	.	.	.	.	C	9.052	0.992256	0.18966	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.43294	1.0;1.0;0.97;0.95;2.01;0.98	5.54	5.54	0.83059	.	0.043829	0.85682	D	0.000000	T	0.35595	0.0937	L	0.40543	1.245	0.80722	D	1	P;P;P;B;P	0.44429	0.481;0.456;0.481;0.106;0.835	B;B;B;B;B	0.39258	0.146;0.138;0.228;0.019;0.295	T	0.08066	-1.0740	10	0.12103	T	0.63	-40.1322	19.6787	0.95950	0.0:1.0:0.0:0.0	.	420;471;438;352;436	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	438;438;438;436;420;352;471	ENSP00000360280:C438S;ENSP00000360278:C438S;ENSP00000395296:C436S;ENSP00000387581:C420S;ENSP00000409328:C352S;ENSP00000360275:C471S	ENSP00000360275:C471S	C	-	2	0	DAB1	57253275	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.890000	0.99128	0.650000	0.86243	TGT		0.547	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		9	56	0	0	0	0.004482	0	9	56		
DAB1	1600	broad.mit.edu	37	1	57480743	57480743	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480743C>A	ENST00000371231.1	-	13	1390	c.1356G>T	c.(1354-1356)caG>caT	p.Q452H	DAB1_ENST00000414851.2_Missense_Mutation_p.Q401H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q417H|DAB1_ENST00000439789.2_Missense_Mutation_p.Q333H|DAB1_ENST00000371234.4_Missense_Mutation_p.Q419H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.Q419H			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	452					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.Q419H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTGGGCCATCTGGAAATCCT	0.597																																						uc001cys.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1255-1257)CAG>CAT		disabled homolog 1							76.0	78.0	77.0					1																	57480743		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480743C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1356G>T	1.37:g.57480743C>A	ENSP00000360275:p.Gln452His					DAB1_uc001cyt.1_Missense_Mutation_p.Q417H|DAB1_uc001cyq.1_Missense_Mutation_p.Q417H|DAB1_uc001cyr.1_Missense_Mutation_p.Q333H|DAB1_uc009vzw.1_Missense_Mutation_p.Q401H|DAB1_uc009vzx.1_Missense_Mutation_p.Q419H	p.Q419H	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1931	-			452					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1257G>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.569073	0.86439	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.43;-0.47;0.69;-0.32	5.54	5.54	0.83059	.	0.115830	0.64402	D	0.000006	D	0.84826	0.5558	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.997;0.999	D;D;D;D;D	0.91635	0.996;0.997;0.999;0.995;0.999	D	0.85489	0.1184	10	0.87932	D	0	-37.1852	19.6787	0.95950	0.0:1.0:0.0:0.0	.	401;452;419;333;417	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	H	419;419;419;417;401;333;452	ENSP00000360280:Q419H;ENSP00000360278:Q419H;ENSP00000395296:Q417H;ENSP00000387581:Q401H;ENSP00000409328:Q333H;ENSP00000360275:Q452H	ENSP00000360275:Q452H	Q	-	3	2	DAB1	57253331	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.560000	0.67332	2.890000	0.99128	0.650000	0.86243	CAG		0.597	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		12	56	1	0	1.08611e-07	0.000978	1.16408e-07	12	56		
DAB1	1600	broad.mit.edu	37	1	57480856	57480856	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57480856C>T	ENST00000371231.1	-	13	1277	c.1243G>A	c.(1243-1245)Ggt>Agt	p.G415S	DAB1_ENST00000414851.2_Missense_Mutation_p.G364S|DAB1_ENST00000420954.2_Missense_Mutation_p.G380S|DAB1_ENST00000439789.2_Missense_Mutation_p.G296S|DAB1_ENST00000371234.4_Missense_Mutation_p.G382S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.G382S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	415					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.G382S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGAGGGGACCTTGGAACATG	0.602																																						uc001cys.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1144-1146)GGT>AGT		disabled homolog 1							84.0	73.0	77.0					1																	57480856		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480856C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1243G>A	1.37:g.57480856C>T	ENSP00000360275:p.Gly415Ser					DAB1_uc001cyt.1_Missense_Mutation_p.G380S|DAB1_uc001cyq.1_Missense_Mutation_p.G380S|DAB1_uc001cyr.1_Missense_Mutation_p.G296S|DAB1_uc009vzw.1_Missense_Mutation_p.G364S|DAB1_uc009vzx.1_Missense_Mutation_p.G382S	p.G382S	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1818	-			415					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1144G>A		.	.	.	.	.	.	.	.	.	.	C	18.23	3.578822	0.65878	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.54279	0.67;0.67;0.58;0.75;1.6;0.65	5.54	5.54	0.83059	.	0.200719	0.52532	D	0.000061	T	0.62901	0.2466	L	0.33485	1.01	0.47341	D	0.999392	D;D;D;D;D	0.89917	0.987;0.96;0.964;1.0;0.987	P;P;P;D;P	0.80764	0.846;0.847;0.742;0.994;0.906	T	0.53194	-0.8473	10	0.20046	T	0.44	-46.3471	19.6787	0.95950	0.0:1.0:0.0:0.0	.	364;415;382;296;380	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	382;382;382;380;364;296;415	ENSP00000360280:G382S;ENSP00000360278:G382S;ENSP00000395296:G380S;ENSP00000387581:G364S;ENSP00000409328:G296S;ENSP00000360275:G415S	ENSP00000360275:G415S	G	-	1	0	DAB1	57253444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.767000	0.47637	2.890000	0.99128	0.650000	0.86243	GGT		0.602	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		13	55	0	0	0	0.001855	0	13	55		
DAB1	1600	broad.mit.edu	37	1	57481004	57481004	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:57481004C>A	ENST00000371231.1	-	13	1129	c.1095G>T	c.(1093-1095)gtG>gtT	p.V365V	DAB1_ENST00000414851.2_Silent_p.V314V|DAB1_ENST00000420954.2_Silent_p.V330V|DAB1_ENST00000439789.2_Silent_p.V246V|DAB1_ENST00000371234.4_Silent_p.V332V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Silent_p.V332V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	365					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.V332V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCCCCGGCATCACCTGAGCGA	0.667																																						uc001cys.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(994-996)GTG>GTT		disabled homolog 1							35.0	38.0	37.0					1																	57481004		2203	4299	6502	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57481004C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1095G>T	1.37:g.57481004C>A						DAB1_uc001cyt.1_Silent_p.V330V|DAB1_uc001cyq.1_Silent_p.V330V|DAB1_uc001cyr.1_Silent_p.V246V|DAB1_uc009vzw.1_Silent_p.V314V|DAB1_uc009vzx.1_Silent_p.V332V	p.V332V	NM_021080	NP_066566	O75553	DAB1_HUMAN			14	1670	-			365					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.996G>T																																																																																					0.667	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1		NM_021080		8	46	1	0	0.00307968	0.00308	0.00314745	8	46		
LRRC7	57554	broad.mit.edu	37	1	70541913	70541913	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:70541913G>A	ENST00000035383.5	+	22	4300	c.4270G>A	c.(4270-4272)Gga>Aga	p.G1424R	LRRC7_ENST00000310961.5_Missense_Mutation_p.G1382R|LRRC7_ENST00000415775.2_Missense_Mutation_p.G708R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1424						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.G1424R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGCCACCCGGGGACCTCAGCC	0.468																																						uc001dep.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4270-4272)GGA>AGA		leucine rich repeat containing 7							83.0	83.0	83.0					1																	70541913		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541913G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4270G>A	1.37:g.70541913G>A	ENSP00000035383:p.Gly1424Arg					LRRC7_uc009wbg.2_Missense_Mutation_p.G708R|LRRC7_uc001deq.2_Missense_Mutation_p.G618R	p.G1424R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4300	+			1424					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4270G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402349	0.42613	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.34859	1.34;1.4;2.5	6.06	6.06	0.98353	PDZ/DHR/GLGF (1);	0.142736	0.50627	D	0.000113	T	0.27349	0.0671	N	0.08118	0	0.46725	D	0.999178	B;P;D	0.58268	0.005;0.933;0.982	B;P;P	0.56700	0.006;0.804;0.543	T	0.18871	-1.0323	10	0.46703	T	0.11	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	708;1377;1424	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	R	1382;1424;708;1200	ENSP00000309245:G1382R;ENSP00000035383:G1424R;ENSP00000394867:G708R	ENSP00000035383:G1424R	G	+	1	0	LRRC7	70314501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.842000	0.55858	2.880000	0.98712	0.650000	0.86243	GGA		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		5	89	0	0	0	0.001168	0	5	89		
ASB17	127247	broad.mit.edu	37	1	76397741	76397741	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:76397741T>C	ENST00000284142.6	-	1	375	c.236A>G	c.(235-237)tAc>tGc	p.Y79C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	79					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.Y79C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTCAAAACGGTATCCTGATTT	0.378																																						uc001dhe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(235-237)TAC>TGC		ankyrin repeat and SOCS box-containing 17							129.0	119.0	122.0					1																	76397741		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397741T>C	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.236A>G	1.37:g.76397741T>C	ENSP00000284142:p.Tyr79Cys					ASB17_uc001dhf.1_RNA	p.Y79C	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	376	-			79					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.236A>G	CCDS671.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560600	0.45590	.	.	ENSG00000154007	ENST00000284142	T	0.35973	1.28	6.08	4.96	0.65561	.	0.667620	0.13806	N	0.361443	T	0.07683	0.0193	N	0.08118	0	0.28271	N	0.924423	B	0.06786	0.001	B	0.04013	0.001	T	0.25950	-1.0117	10	0.39692	T	0.17	.	9.0289	0.36247	0.0:0.0827:0.0:0.9173	.	79	Q8WXJ9	ASB17_HUMAN	C	79	ENSP00000284142:Y79C	ENSP00000284142:Y79C	Y	-	2	0	ASB17	76170329	1.000000	0.71417	0.981000	0.43875	0.595000	0.36748	1.723000	0.38053	1.123000	0.41961	0.533000	0.62120	TAC		0.378	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1		NM_080868		15	63	0	0	0	0.003163	0	15	63		
LPHN2	23266	broad.mit.edu	37	1	82432119	82432119	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:82432119G>A	ENST00000370728.1	+	15	2808	c.2163G>A	c.(2161-2163)cgG>cgA	p.R721R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.R721R|LPHN2_ENST00000370725.1_Silent_p.R721R|LPHN2_ENST00000370721.1_Silent_p.R646R|LPHN2_ENST00000359929.3_Silent_p.R708R|LPHN2_ENST00000370723.1_Silent_p.R708R|LPHN2_ENST00000335786.5_Silent_p.R721R|LPHN2_ENST00000319517.6_Silent_p.R708R|LPHN2_ENST00000370715.1_Silent_p.R708R|LPHN2_ENST00000370730.1_Silent_p.R721R|LPHN2_ENST00000370717.2_Silent_p.R721R|LPHN2_ENST00000370713.1_Silent_p.R708R|LPHN2_ENST00000370727.1_Silent_p.R721R|LPHN2_ENST00000394879.1_Silent_p.R708R			O95490	LPHN2_HUMAN	latrophilin 2	721					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.R708R(1)|p.R721R(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCATTTACCGGAGCCTGGGAC	0.373																																						uc001dit.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2122-2124)CGG>CGA		latrophilin 2 precursor							86.0	82.0	84.0					1																	82432119		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82432119G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2163G>A	1.37:g.82432119G>A						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.R708R|LPHN2_uc001div.2_Silent_p.R708R|LPHN2_uc009wcd.2_Silent_p.R708R|LPHN2_uc001diw.2_Silent_p.R292R	p.R708R	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	12	2305	+			721			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.2124G>A		.	.	.	.	.	.	.	.	.	.	G	9.154	1.016941	0.19355	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.94	2.7	0.31948	.	.	.	.	.	T	0.30070	0.0753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14227	-1.0480	4	.	.	.	.	3.7173	0.08442	0.4081:0.0:0.4285:0.1634	.	.	.	.	E	589	.	.	G	+	2	0	LPHN2	82204707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.050000	0.30404	0.255000	0.21593	0.561000	0.74099	GGA		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		23	84	0	0	0	0.00278	0	23	84		
CCDC18	343099	broad.mit.edu	37	1	93677790	93677790	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:93677790A>G	ENST00000343253.7	+	11	1969	c.1467A>G	c.(1465-1467)gaA>gaG	p.E489E	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.E607E|CCDC18_ENST00000338949.4_Silent_p.E288E|CCDC18_ENST00000401026.3_Silent_p.E489E			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	489								p.E607E(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TAGAAACAGAACCTGTAAAGC	0.294																																						uc001dpq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1819-1821)GAA>GAG		sarcoma antigen NY-SAR-41							120.0	117.0	118.0					1																	93677790		1805	4067	5872	SO:0001819	synonymous_variant	343099							g.chr1:93677790A>G			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1467A>G	1.37:g.93677790A>G						CCDC18_uc009wdl.1_Silent_p.E168E	p.E607E	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	11	1989	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	489					Q6ZU17	Silent	SNP	ENST00000343253.7	37	c.1821A>G		.	.	.	.	.	.	.	.	.	.	A	8.899	0.955995	0.18507	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.62	2.06	0.26882	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32745	-0.9895	4	.	.	.	.	9.5532	0.39324	0.7279:0.0:0.2721:0.0	.	.	.	.	S	543	.	.	N	+	2	0	CCDC18	93450378	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.455000	0.21843	0.097000	0.17492	0.460000	0.39030	AAC		0.294	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		34	179	0	0	0	0.006999	0	34	179		
COL11A1	1301	broad.mit.edu	37	1	103544384	103544384	+	Silent	SNP	T	T	C	rs150668398		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:103544384T>C	ENST00000370096.3	-	3	630	c.318A>G	c.(316-318)aaA>aaG	p.K106K	COL11A1_ENST00000512756.1_Silent_p.K106K|COL11A1_ENST00000353414.4_Silent_p.K106K|COL11A1_ENST00000358392.2_Silent_p.K106K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	106	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K106K(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTTTTGGTTTTACTGTAA	0.333																																						uc001dul.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(316-318)AAA>AAG		alpha 1 type XI collagen isoform A		T	,,,	0,4406		0,0,2203	40.0	43.0	42.0		318,318,318,318	3.1	1.0	1	dbSNP_134	42	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,3,6499	CC,CT,TT		0.0349,0.0,0.0231	,,,	106/1768,106/1807,106/1819,106/1691	103544384	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544384T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.318A>G	1.37:g.103544384T>C						COL11A1_uc001dum.2_Silent_p.K106K|COL11A1_uc001dun.2_Silent_p.K106K|COL11A1_uc009weh.2_Silent_p.K106K	p.K106K	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	636	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	106			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.318A>G	CCDS778.1																																																																																				0.333	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		13	39	0	0	0	0.001368	0	13	39		
KCND3	3752	broad.mit.edu	37	1	112524482	112524482	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:112524482G>C	ENST00000315987.2	-	2	1346	c.867C>G	c.(865-867)ctC>ctG	p.L289L	KCND3_ENST00000302127.4_Silent_p.L289L|KCND3_ENST00000369697.1_Silent_p.L289L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	289					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.L289L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGAAGACCCGGAGCGTGACGA	0.602																																						uc001ebu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(865-867)CTC>CTG		potassium voltage-gated channel, Shal-related							79.0	80.0	80.0					1																	112524482		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524482G>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.867C>G	1.37:g.112524482G>C						KCND3_uc001ebv.1_Silent_p.L289L	p.L289L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1347	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	289			Helical; Voltage-sensor; Name=Segment S4; (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.867C>G	CCDS843.1																																																																																				0.602	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1		NM_172198		6	54	0	0	0	0.00308	0	6	54		
TTF2	8458	broad.mit.edu	37	1	117640030	117640030	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:117640030C>A	ENST00000369466.4	+	21	3288	c.3244C>A	c.(3244-3246)Cac>Aac	p.H1082N	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1082	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.H1082N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGGAGGAAATCACCTCTTTCT	0.463																																						uc001egy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3244-3246)CAC>AAC		transcription termination factor, RNA polymerase							316.0	288.0	297.0					1																	117640030		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117640030C>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3244C>A	1.37:g.117640030C>A	ENSP00000358478:p.His1082Asn						p.H1082N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	21	3264	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	1082			Helicase C-terminal.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.3244C>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048111	0.75846	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	T;T	0.76709	-1.04;-1.04	5.37	5.37	0.77165	Helicase, C-terminal (3);	0.000000	0.38436	N	0.001696	D	0.84224	0.5425	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82552	-0.0400	10	0.39692	T	0.17	-18.5816	16.9523	0.86249	0.0:1.0:0.0:0.0	.	1082	Q9UNY4	TTF2_HUMAN	N	1082;63	ENSP00000358478:H1082N;ENSP00000408111:H63N	ENSP00000358478:H1082N	H	+	1	0	TTF2	117441553	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	5.471000	0.66762	2.678000	0.91216	0.448000	0.29417	CAC		0.463	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3				53	249	1	0	5.12918e-33	0.00361	5.73261e-33	53	249		
PDE4DIP	9659	broad.mit.edu	37	1	144922578	144922578	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:144922578G>C	ENST00000369354.3	-	7	1018	c.829C>G	c.(829-831)Caa>Gaa	p.Q277E	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q440E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q343E|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q440E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q64E|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q414E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q414E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	277					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q277E(2)|p.Q440E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTGCTTTTGAGACGACTCC	0.373			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		urinary_tract(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(829-831)CAA>GAA		phosphodiesterase 4D interacting protein isoform							309.0	320.0	316.0					1																	144922578		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144922578G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.829C>G	1.37:g.144922578G>C	ENSP00000358360:p.Gln277Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q343E|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q277E|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q440E|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q64E	p.Q277E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	7	1120	-			277			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.829C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273516	0.59649	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13538	4.6;4.68;4.69;4.75;4.75;3.7;3.71;2.58;2.59;2.6	6.06	6.06	0.98353	.	.	.	.	.	T	0.18635	0.0447	M	0.64997	1.995	0.80722	D	1	P;P;P;D;P	0.54047	0.792;0.94;0.856;0.964;0.934	B;P;P;P;P	0.56563	0.342;0.57;0.605;0.801;0.633	T	0.00217	-1.1909	9	0.52906	T	0.07	.	11.4023	0.49876	0.0812:0.0:0.9188:0.0	.	440;277;440;343;277	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	E	343;277;277;440;414;414;277;277;440;440;64	ENSP00000327209:Q343E;ENSP00000358360:Q277E;ENSP00000358363:Q277E;ENSP00000435654:Q414E;ENSP00000358366:Q414E;ENSP00000358357:Q277E;ENSP00000358355:Q277E;ENSP00000316434:Q440E;ENSP00000433392:Q440E;ENSP00000436791:Q64E	ENSP00000327209:Q343E	Q	-	1	0	PDE4DIP	143633935	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.739000	0.68622	2.880000	0.98712	0.650000	0.86243	CAA		0.373	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		69	762	0	0	0	0.00361	0	69	762		
SV2A	9900	broad.mit.edu	37	1	149879685	149879685	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:149879685T>C	ENST00000369146.3	-	9	1943	c.1453A>G	c.(1453-1455)Aaa>Gaa	p.K485E	SV2A_ENST00000369145.1_Missense_Mutation_p.K485E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	485					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.K485E(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAACACTTTGGTGCGGGAT	0.527																																						uc001etg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|pancreas(1)	7						c.(1453-1455)AAA>GAA		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						160.0	157.0	158.0					1																	149879685		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149879685T>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1453A>G	1.37:g.149879685T>C	ENSP00000358142:p.Lys485Glu					SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.K485E	p.K485E	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		9	1944	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		485			Extracellular (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1453A>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525958	0.64860	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.69435	0.62;-0.4	5.26	4.13	0.48395	Major facilitator superfamily domain (1);	0.243999	0.33092	N	0.005282	T	0.48223	0.1488	M	0.70595	2.14	0.58432	D	0.999995	B	0.34015	0.435	B	0.36134	0.218	T	0.47636	-0.9102	10	0.25106	T	0.35	-10.9303	8.9894	0.36014	0.0:0.087:0.0:0.913	.	485	Q7L0J3	SV2A_HUMAN	E	485	ENSP00000358142:K485E;ENSP00000358141:K485E	ENSP00000358141:K485E	K	-	1	0	SV2A	148146309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	1.029000	0.39812	0.454000	0.30748	AAA		0.527	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1				50	168	0	0	0	0.00361	0	50	168		
TARS2	80222	broad.mit.edu	37	1	150477198	150477198	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150477198C>T	ENST00000369064.3	+	15	1843	c.1809C>T	c.(1807-1809)tgC>tgT	p.C603C	TARS2_ENST00000606933.1_Silent_p.C521C|TARS2_ENST00000369054.2_Silent_p.C473C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAAT	0.567																																						uc001euq.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|endometrium(1)	ovary(1)	1						c.(1807-1809)TGC>TGT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						95.0	103.0	100.0					1																	150477198		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1809C>T	1.37:g.150477198C>T						TARS2_uc001eur.2_Silent_p.C521C|TARS2_uc009wlt.2_Silent_p.C229C|TARS2_uc009wls.2_Silent_p.C473C	p.C603C	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1816	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1809C>T	CCDS952.1																																																																																				0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		19	203	0	0	0	0.007413	0	19	203		
CTSS	1520	broad.mit.edu	37	1	150727584	150727584	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150727584G>A	ENST00000368985.3	-	4	552	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	98					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.P98S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGCTGGGAACTCTCAGG	0.408																																						uc001evn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(292-294)CCC>TCC		cathepsin S preproprotein							180.0	173.0	176.0					1																	150727584		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727584G>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.292C>T	1.37:g.150727584G>A	ENSP00000357981:p.Pro98Ser					CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.P98S	p.P98S	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	425	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		98					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.292C>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776564	0.31411	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	3.57	0.40892	.	0.207947	0.52532	D	0.000069	T	0.05044	0.0135	L	0.28556	0.865	0.21184	N	0.999769	B	0.23854	0.092	B	0.14023	0.01	T	0.27739	-1.0065	10	0.17369	T	0.5	.	10.3787	0.44099	0.142:0.0:0.858:0.0	.	98	P25774	CATS_HUMAN	S	98	ENSP00000357981:P98S	ENSP00000357981:P98S	P	-	1	0	CTSS	148994208	1.000000	0.71417	0.845000	0.33349	0.803000	0.45373	5.536000	0.67180	2.573000	0.86826	0.591000	0.81541	CCC		0.408	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1		NM_004079		8	302	0	0	0	0.00308	0	8	302		
FAM63A	55793	broad.mit.edu	37	1	150973046	150973046	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:150973046G>T	ENST00000361936.5	-	6	1576	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	FAM63A_ENST00000361738.6_Missense_Mutation_p.L256M|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Missense_Mutation_p.L113M|FAM63A_ENST00000312210.5_Missense_Mutation_p.L66M	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	208						extracellular vesicular exosome (GO:0070062)		p.L208M(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGACATCCAGACCTGTGGCC	0.493																																						uc001ewf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(622-624)CTG>ATG		hypothetical protein LOC55793 isoform 1							121.0	117.0	119.0					1																	150973046		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150973046G>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.622C>A	1.37:g.150973046G>T	ENSP00000354814:p.Leu208Met					FAM63A_uc001ewc.2_Missense_Mutation_p.L66M|FAM63A_uc010pcm.1_Missense_Mutation_p.L113M|FAM63A_uc001ewd.2_Missense_Mutation_p.L66M|FAM63A_uc001ewe.2_Missense_Mutation_p.L42M|FAM63A_uc010pcn.1_Missense_Mutation_p.L256M|FAM63A_uc001ewg.2_Missense_Mutation_p.L208M	p.L208M	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	2306	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		208					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.622C>A	CCDS976.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678708	0.88542	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.56103	0.48;0.64;0.57;0.63	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000001	T	0.59542	0.2201	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.98;0.999	T	0.54443	-0.8293	10	0.27082	T	0.32	-11.6912	15.3579	0.74443	0.0:0.0:1.0:0.0	.	256;208	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	M	66;208;256;113	ENSP00000310923:L66M;ENSP00000354814:L208M;ENSP00000354669:L256M;ENSP00000437174:L113M	ENSP00000310923:L66M	L	-	1	2	FAM63A	149239670	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.494000	0.73661	2.474000	0.83562	0.563000	0.77884	CTG		0.493	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1		NM_018379		14	130	1	0	8.60227e-14	0.004007	9.51257e-14	14	130		
SCNM1	79005	broad.mit.edu	37	1	151139670	151139670	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151139670G>C	ENST00000368905.4	+	4	396	c.285G>C	c.(283-285)ttG>ttC	p.L95F	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000368908.5_5'Flank|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	95					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.L95F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAATGAATTGAGAAGGGAAG	0.483																																						uc001ewz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(283-285)TTG>TTC		sodium channel modifier 1							166.0	169.0	168.0					1																	151139670		2203	4300	6503	SO:0001583	missense	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151139670G>C	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.285G>C	1.37:g.151139670G>C	ENSP00000357901:p.Leu95Phe					LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.L95F|SCNM1_uc009wmn.2_RNA	p.L95F	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	397	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		95					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.285G>C	CCDS987.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821281	0.50633	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	4.83	-0.586	0.11694	.	0.438355	0.20527	N	0.090591	T	0.08935	0.0221	L	0.29908	0.895	0.09310	N	1	P;B	0.35628	0.513;0.358	B;B	0.36289	0.181;0.221	T	0.16867	-1.0388	9	0.59425	D	0.04	-21.8147	4.4252	0.11500	0.2775:0.3137:0.4088:0.0	.	95;95	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	F	95;60	.	ENSP00000357898:L60F	L	+	3	2	SCNM1	149406294	0.001000	0.12720	0.002000	0.10522	0.509000	0.34042	0.644000	0.24766	-0.431000	0.07307	0.448000	0.29417	TTG		0.483	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2		NM_024041		7	153	0	0	0	0.004482	0	7	153		
SELENBP1	8991	broad.mit.edu	37	1	151338296	151338296	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151338296C>T	ENST00000368868.5	-	8	961	c.870G>A	c.(868-870)gtG>gtA	p.V290V	SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Silent_p.V228V|SELENBP1_ENST00000435071.1_Silent_p.V226V|SELENBP1_ENST00000426705.2_Silent_p.V332V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	290					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.V290V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCTGGATCACCTTCTCCA	0.552																																						uc001exx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(868-870)GTG>GTA		selenium binding protein 1							115.0	112.0	113.0					1																	151338296		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338296C>T	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.870G>A	1.37:g.151338296C>T						SELENBP1_uc010pcy.1_Silent_p.V332V|SELENBP1_uc001exy.2_Silent_p.V187V|SELENBP1_uc001exz.2_Silent_p.V187V|SELENBP1_uc010pcz.1_Silent_p.V228V|SELENBP1_uc009wms.2_Silent_p.V126V|SELENBP1_uc009wmt.2_Silent_p.V187V|SELENBP1_uc001eya.2_Silent_p.V226V|SELENBP1_uc009wmu.2_Silent_p.V187V	p.V290V	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	917	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		290					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.870G>A	CCDS995.1																																																																																				0.552	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4				16	219	0	0	0	0.004007	0	16	219		
POGZ	23126	broad.mit.edu	37	1	151378787	151378787	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151378787G>A	ENST00000271715.2	-	19	3038	c.2724C>T	c.(2722-2724)ctC>ctT	p.L908L	POGZ_ENST00000361398.3_Silent_p.L855L|POGZ_ENST00000491586.1_Silent_p.L864L|POGZ_ENST00000540984.1_Silent_p.L270L|POGZ_ENST00000531094.1_Silent_p.L846L|POGZ_ENST00000392723.1_Silent_p.L855L|POGZ_ENST00000368863.2_Silent_p.L813L|POGZ_ENST00000409503.1_Silent_p.L899L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	908	Pro-rich.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L908L(1)|p.L864L(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTGATGGGAGTGCTGGGG	0.597																																						uc001eyd.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)	3						c.(2722-2724)CTC>CTT		pogo transposable element with ZNF domain							87.0	86.0	86.0					1																	151378787		2203	4300	6503	SO:0001819	synonymous_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151378787G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2724C>T	1.37:g.151378787G>A						POGZ_uc001eye.1_Silent_p.L855L|POGZ_uc010pdb.1_Silent_p.L899L|POGZ_uc001eyf.1_Silent_p.L864L|POGZ_uc010pdc.1_Silent_p.L846L|POGZ_uc009wmv.1_Silent_p.L813L|POGZ_uc010pdd.1_Silent_p.L399L	p.L908L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	3030	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		908			Pro-rich.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	c.2724C>T	CCDS997.1																																																																																				0.597	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2		NM_207171		15	61	0	0	0	0.003163	0	15	61		
CGN	57530	broad.mit.edu	37	1	151506505	151506505	+	Silent	SNP	C	C	A	rs142498835		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151506505C>A	ENST00000271636.7	+	15	2930	c.2797C>A	c.(2797-2799)Cgg>Agg	p.R933R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	927					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.R933R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACACAGCCCGGCTGGACAA	0.637																																						uc009wmw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(2797-2799)CGG>AGG		cingulin							32.0	32.0	32.0					1																	151506505		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151506505C>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2797C>A	1.37:g.151506505C>A						CGN_uc010pde.1_5'Flank	p.R933R	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		15	2941	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		927			Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.2797C>A	CCDS999.1																																																																																				0.637	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770		4	50	1	0	0.00909568	0.009096	0.00918356	4	50		
RORC	6097	broad.mit.edu	37	1	151801935	151801935	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:151801935C>T	ENST00000318247.6	-	2	148		c.e2-1		RORC_ENST00000392697.3_Splice_Site	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGCAGCTCTGTAAAGACA	0.532																																						uc001ezh.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.e2-1		RAR-related orphan receptor C isoform a							111.0	113.0	113.0					1																	151801935		2203	4300	6503	SO:0001630	splice_region_variant	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151801935C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.41-1G>A	1.37:g.151801935C>T						RORC_uc010pdo.1_Splice_Site_p.E68_splice|RORC_uc010pdp.1_Splice_Site_p.E14_splice	p.E14_splice	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	149	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)							Q5SZR9|Q8N5V7|Q8NCY8	Splice_Site	SNP	ENST00000318247.6	37	c.41_splice	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358934	0.61403	.	.	ENSG00000143365	ENST00000392697;ENST00000318247	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5221	0.56065	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RORC	150068559	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.976000	0.56867	2.398000	0.81561	0.561000	0.74099	.		0.532	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			Intron	24	99	0	0	0	0.00278	0	24	99		
FLG	2312	broad.mit.edu	37	1	152281252	152281252	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152281252C>T	ENST00000368799.1	-	3	6145	c.6110G>A	c.(6109-6111)cGa>cAa	p.R2037Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2037	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R2037Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTACCCTCGGTGTCCACT	0.557									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6109-6111)CGA>CAA		filaggrin							540.0	462.0	488.0					1																	152281252		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281252C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6110G>A	1.37:g.152281252C>T	ENSP00000357789:p.Arg2037Gln						p.R2037Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6146	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2037			Ser-rich.|Filaggrin 12.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6110G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.741	0.137813	0.09032	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	3.35	-0.874	0.10631	.	.	.	.	.	T	0.00815	0.0027	L	0.31926	0.97	0.09310	N	1	B	0.29253	0.239	B	0.18263	0.021	T	0.47787	-0.9090	9	0.12430	T	0.62	-6.6813	4.997	0.14245	0.0:0.4934:0.2987:0.2079	.	2037	P20930	FILA_HUMAN	Q	2037	ENSP00000357789:R2037Q	ENSP00000357789:R2037Q	R	-	2	0	FLG	150547876	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.363000	0.01081	-0.398000	0.07679	-3.944000	0.00015	CGA		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		20	853	0	0	0	0.010504	0	20	853		
FLG	2312	broad.mit.edu	37	1	152287037	152287037	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152287037T>C	ENST00000368799.1	-	3	360	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	109					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.K109E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCATGTTTATCATGATGA	0.358									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(325-327)AAA>GAA		filaggrin							156.0	155.0	155.0					1																	152287037		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287037T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.325A>G	1.37:g.152287037T>C	ENSP00000357789:p.Lys109Glu					uc001ezv.2_Intron	p.K109E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	361	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		109					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.325A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.943021	0.34283	.	.	ENSG00000143631	ENST00000368799	T	0.00646	6.0	5.09	-10.2	0.00374	.	.	.	.	.	T	0.00178	0.0005	L	0.43152	1.355	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.50013	-0.8877	9	0.02654	T	1	.	11.402	0.49875	0.0:0.2778:0.5933:0.1289	.	109	P20930	FILA_HUMAN	E	109	ENSP00000357789:K109E	ENSP00000357789:K109E	K	-	1	0	FLG	150553661	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.694000	0.01915	-1.983000	0.00987	-0.449000	0.05564	AAA		0.358	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		15	253	0	0	0	0.00245	0	15	253		
LCE1F	353137	broad.mit.edu	37	1	152749146	152749146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:152749146C>G	ENST00000334371.2	+	1	299	c.299C>G	c.(298-300)tCa>tGa	p.S100*		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	100					keratinization (GO:0031424)			p.S100*(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGCCCTCAGCGGGCTCC	0.642																																						uc010pdv.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(298-300)TCA>TGA		late cornified envelope 1F							30.0	34.0	33.0					1																	152749146		2198	4296	6494	SO:0001587	stop_gained	353137				keratinization			g.chr1:152749146C>G		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.299C>G	1.37:g.152749146C>G	ENSP00000334187:p.Ser100*						p.S100*	NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	299	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		100						Nonsense_Mutation	SNP	ENST00000334371.2	37	c.299C>G	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279555	0.23307	.	.	ENSG00000240386	ENST00000334371	.	.	.	4.06	1.06	0.20224	.	0.288551	0.18949	N	0.126735	.	.	.	.	.	.	0.28107	N	0.931166	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.3038	0.10937	0.0:0.5984:0.1883:0.2133	.	.	.	.	X	100	.	ENSP00000334187:S100X	S	+	2	0	LCE1F	151015770	0.078000	0.21339	0.791000	0.31998	0.164000	0.22412	0.087000	0.14958	0.113000	0.18004	-0.312000	0.09012	TCA		0.642	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2		NM_178354		6	47	0	0	0	0.00308	0	6	47		
INTS3	65123	broad.mit.edu	37	1	153724860	153724860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:153724860C>T	ENST00000318967.2	+	8	1403	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Nonsense_Mutation_p.Q279*|INTS3_ENST00000512605.1_Nonsense_Mutation_p.Q73*|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Nonsense_Mutation_p.Q73*|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	280					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.Q279*(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATAATCCTCAGGCCTTGAG	0.433																																						uc009wom.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(835-837)CAG>TAG		integrator complex subunit 3							253.0	234.0	241.0					1																	153724860		2203	4300	6503	SO:0001587	stop_gained	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153724860C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.835C>T	1.37:g.153724860C>T	ENSP00000318641:p.Gln279*					INTS3_uc001fct.2_Nonsense_Mutation_p.Q279*|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Nonsense_Mutation_p.Q73*|INTS3_uc010peb.1_Nonsense_Mutation_p.Q73*|INTS3_uc001fcw.2_5'UTR	p.Q279*	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	1056	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		280					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Nonsense_Mutation	SNP	ENST00000318967.2	37	c.835C>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	38	6.891420	0.97916	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9503	0.64113	0.0:1.0:0.0:0.0	.	.	.	.	X	279;73;279;73	.	ENSP00000318641:Q279X	Q	+	1	0	INTS3	151991484	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.307000	0.65762	2.221000	0.72209	0.484000	0.47621	CAG		0.433	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2		NM_023015		17	470	0	0	0	0.006122	0	17	470		
PBXIP1	57326	broad.mit.edu	37	1	154924271	154924271	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:154924271C>T	ENST00000368463.3	-	3	249	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Splice_Site_p.G60R|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Splice_Site_p.G31R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G60R(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCAGTACCTTCTCCATCC	0.522																																						uc001ffr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(178-180)GGG>AGG		pre-B-cell leukemia homeobox interacting protein							197.0	210.0	206.0					1																	154924271		2203	4300	6503	SO:0001630	splice_region_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154924271C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.178+1G>A	1.37:g.154924271C>T						PBXIP1_uc001ffs.2_Missense_Mutation_p.G31R|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	p.G60R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	237	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		60					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.178G>A	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887007	0.52014	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T	0.12255	2.7;2.7	4.67	4.67	0.58626	.	0.744563	0.12209	N	0.489475	T	0.07007	0.0178	L	0.29908	0.895	0.80722	D	1	P	0.48016	0.904	P	0.44897	0.463	T	0.34800	-0.9814	9	.	.	.	-6.8974	12.928	0.58270	0.0:1.0:0.0:0.0	.	60	Q96AQ6	PBIP1_HUMAN	R	31;60;60;60	ENSP00000357450:G31R;ENSP00000357448:G60R	.	G	-	1	0	PBXIP1	153190895	0.996000	0.38824	1.000000	0.80357	0.209000	0.24338	3.262000	0.51538	2.406000	0.81754	0.555000	0.69702	GGG		0.522	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524	Missense_Mutation	12	457	0	0	0	0.000978	0	12	457		
DAP3	7818	broad.mit.edu	37	1	155695275	155695275	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:155695275C>G	ENST00000368336.5	+	5	497	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	DAP3_ENST00000343043.3_Missense_Mutation_p.L125V|DAP3_ENST00000421487.2_Missense_Mutation_p.L91V|DAP3_ENST00000471642.2_Missense_Mutation_p.L84V|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000535183.1_Missense_Mutation_p.L84V|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	125					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.L125V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TATACGATATCTTCTGTGTAT	0.438																																						uc001flq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(373-375)CTT>GTT		death-associated protein 3							195.0	179.0	184.0					1																	155695275		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695275C>G	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.373C>G	1.37:g.155695275C>G	ENSP00000357320:p.Leu125Val					DAP3_uc001flr.2_Missense_Mutation_p.L125V|DAP3_uc001fls.2_Missense_Mutation_p.L125V|DAP3_uc010pgl.1_Missense_Mutation_p.L84V|DAP3_uc001flt.2_Missense_Mutation_p.L91V|DAP3_uc001flu.2_Missense_Mutation_p.L125V|DAP3_uc010pgm.1_Missense_Mutation_p.L91V	p.L125V	NM_033657	NP_387506	P51398	RT29_HUMAN			5	542	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		125					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.373C>G	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	2.738	-0.262861	0.05754	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.65	1.29	0.21616	.	0.275955	0.36167	N	0.002753	T	0.04092	0.0114	N	0.03000	-0.44	0.38676	D	0.952413	B;B;B;B	0.12013	0.002;0.005;0.002;0.003	B;B;B;B	0.19148	0.02;0.024;0.024;0.02	T	0.43261	-0.9402	10	0.02654	T	1	-2.7984	11.6207	0.51115	0.0866:0.3194:0.594:0.0	.	84;91;91;125	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	V	125;125;91;84	ENSP00000357320:L125V;ENSP00000341692:L125V;ENSP00000412605:L91V;ENSP00000445003:L84V	ENSP00000341692:L125V	L	+	1	0	DAP3	153961899	0.314000	0.24563	0.525000	0.27900	0.961000	0.63080	0.270000	0.18607	0.087000	0.17167	0.655000	0.94253	CTT		0.438	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1		NM_004632		25	141	0	0	0	0.009535	0	25	141		
HAPLN2	60484	broad.mit.edu	37	1	156593922	156593922	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156593922G>A	ENST00000255039.1	+	4	816	c.409G>A	c.(409-411)Gag>Aag	p.E137K	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	137	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.E137K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATCGAGGACGAGAGCGTGGC	0.697																																						uc001fpn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(409-411)GAG>AAG		brain link protein-1 precursor							43.0	37.0	39.0					1																	156593922		2179	4231	6410	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593922G>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.409G>A	1.37:g.156593922G>A	ENSP00000255039:p.Glu137Lys					HAPLN2_uc010phq.1_Missense_Mutation_p.E137K	p.E137K	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN			4	816	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		137			Ig-like V-type.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.409G>A	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331055	0.60853	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.27256	1.68;1.68	4.04	3.12	0.35913	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055502	0.64402	D	0.000001	T	0.09291	0.0229	L	0.51914	1.62	0.44067	D	0.996819	P	0.39250	0.665	B	0.33690	0.168	T	0.05666	-1.0871	10	0.44086	T	0.13	-25.5836	6.9099	0.24329	0.0976:0.1768:0.7256:0.0	.	137	Q9GZV7	HPLN2_HUMAN	K	137;110;137	ENSP00000255039:E137K;ENSP00000388835:E137K	ENSP00000255039:E137K	E	+	1	0	HAPLN2	154860546	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.170000	0.71920	1.055000	0.40461	-0.136000	0.14681	GAG		0.697	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1		NM_021817		4	26	0	0	0	0.009096	0	4	26		
NES	10763	broad.mit.edu	37	1	156642464	156642464	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:156642464C>G	ENST00000368223.3	-	4	1648	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	506	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E506Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCTTTCTCTACCAACCCC	0.502																																						uc001fpq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(1516-1518)GAG>CAG		nestin							115.0	117.0	117.0					1																	156642464		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642464C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1516G>C	1.37:g.156642464C>G	ENSP00000357206:p.Glu506Gln						p.E506Q	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1649	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		506			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1516G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838141	0.71373	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.89196	-2.48	5.27	3.28	0.37604	.	0.000000	0.34676	N	0.003764	T	0.77870	0.4195	M	0.67953	2.075	0.28848	N	0.896211	P	0.43857	0.819	B	0.36244	0.22	T	0.73506	-0.3961	10	0.87932	D	0	.	9.4142	0.38512	0.0:0.7743:0.1432:0.0825	.	506	P48681	NEST_HUMAN	Q	506	ENSP00000357206:E506Q	ENSP00000255024:E506Q	E	-	1	0	NES	154909088	0.896000	0.30565	0.210000	0.23637	0.265000	0.26407	1.662000	0.37418	1.190000	0.43042	0.460000	0.39030	GAG		0.502	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		31	267	0	0	0	0.003271	0	31	267		
ALDH9A1	223	broad.mit.edu	37	1	165649774	165649774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:165649774G>A	ENST00000354775.4	-	5	1043	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.P153S	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	223					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.P247S(1)|p.P223S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCCACATCGGGATGCTGACAC	0.532																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(739-741)CCC>TCC		aldehyde dehydrogenase 9A1	NADH(DB00157)						135.0	130.0	132.0					1																	165649774		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165649774G>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.739C>T	1.37:g.165649774G>A	ENSP00000346827:p.Pro247Ser					ALDH9A1_uc010pky.1_Missense_Mutation_p.P153S|ALDH9A1_uc010pkz.1_Missense_Mutation_p.P237S|ALDH9A1_uc010pla.1_Missense_Mutation_p.P153S	p.P247S	NM_000696	NP_000687	P49189	AL9A1_HUMAN			5	844	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		223					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.739C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154681	0.38021	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	D;D	0.92495	-3.05;-3.05	5.59	3.69	0.42338	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.742218	0.13849	N	0.358506	D	0.85647	0.5745	L	0.60845	1.875	0.35595	D	0.807424	B;B;B;B	0.28378	0.037;0.088;0.209;0.088	B;B;B;B	0.31812	0.034;0.034;0.136;0.026	D	0.83712	0.0188	9	0.59425	D	0.04	.	10.8704	0.46879	0.1582:0.0:0.8418:0.0	.	153;237;223;247	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	S	247;153	ENSP00000346827:P247S;ENSP00000440026:P153S	ENSP00000346827:P247S	P	-	1	0	ALDH9A1	163916398	1.000000	0.71417	0.595000	0.28798	0.466000	0.32739	7.532000	0.81985	1.355000	0.45865	0.561000	0.74099	CCC		0.532	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1				39	186	0	0	0	0.00623	0	39	186		
TBX19	9095	broad.mit.edu	37	1	168278089	168278089	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:168278089C>G	ENST00000367821.3	+	7	1077	c.1026C>G	c.(1024-1026)acC>acG	p.T342T	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	342					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T342T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TACCCCACACCAACGGACCAA	0.507																																						uc001gfl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1024-1026)ACC>ACG		T-box 19							126.0	113.0	117.0					1																	168278089		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168278089C>G	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1026C>G	1.37:g.168278089C>G						TBX19_uc001gfj.3_Silent_p.T210T|TBX19_uc001gfm.2_Silent_p.T45T	p.T342T	NM_005149	NP_005140	O60806	TBX19_HUMAN			7	1077	+	all_hematologic(923;0.215)		342					Q52M53	Silent	SNP	ENST00000367821.3	37	c.1026C>G	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	2.617	-0.289361	0.05605	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.61	3.74	0.42951	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.10706	-1.0618	3	.	.	.	.	6.8536	0.24028	0.0:0.6994:0.146:0.1546	.	.	.	.	E	212;175	.	.	Q	+	1	0	TBX19	166544713	0.568000	0.26635	1.000000	0.80357	0.254000	0.26022	0.054000	0.14205	0.715000	0.32103	0.650000	0.86243	CAA		0.507	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1		NM_005149		11	156	0	0	0	0.001368	0	11	156		
SCYL3	57147	broad.mit.edu	37	1	169847899	169847899	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:169847899T>A	ENST00000367770.1	-	2	274	c.227A>T	c.(226-228)gAt>gTt	p.D76V	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.D76V|SCYL3_ENST00000367772.4_Missense_Mutation_p.D76V			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D76V(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGAATGCCATCCGCTTCCAC	0.443																																						uc001ggs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(226-228)GAT>GTT		SCY1-like 3 isoform 2							145.0	143.0	143.0					1																	169847899		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169847899T>A	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.227A>T	1.37:g.169847899T>A	ENSP00000356744:p.Asp76Val					SCYL3_uc001ggt.2_Missense_Mutation_p.D76V|SCYL3_uc001ggu.2_RNA	p.D76V	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			3	425	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		76			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.227A>T	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932198	0.73442	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.38	4.26	0.50523	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.200074	0.51477	D	0.000088	T	0.78578	0.4305	M	0.74647	2.275	0.53005	D	0.999962	D;D	0.60575	0.985;0.988	P;D	0.67900	0.809;0.954	T	0.79678	-0.1703	9	.	.	.	-16.1043	10.9599	0.47379	0.0:0.0742:0.0:0.9258	.	76;76	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	V	76	ENSP00000356746:D76V;ENSP00000356745:D76V;ENSP00000356744:D76V;ENSP00000407993:D76V	.	D	-	2	0	SCYL3	168114523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.019000	0.49635	0.988000	0.38734	0.460000	0.39030	GAT		0.443	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		54	193	0	0	0	0.00361	0	54	193		
PRG4	10216	broad.mit.edu	37	1	186273374	186273374	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:186273374G>C	ENST00000445192.2	+	5	499	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	PRG4_ENST00000367483.4_Missense_Mutation_p.E111Q|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.E111Q|PRG4_ENST00000367486.3_Missense_Mutation_p.E152Q	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	152					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E152Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TATAGAATCAGAGGAAATAAC	0.398																																						uc001gru.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(454-456)GAG>CAG		proteoglycan 4 isoform A							132.0	128.0	129.0					1																	186273374		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273374G>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.454G>C	1.37:g.186273374G>C	ENSP00000399679:p.Glu152Gln					PRG4_uc001grt.3_Missense_Mutation_p.E111Q|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	p.E152Q	NM_005807	NP_005798	Q92954	PRG4_HUMAN			5	505	+			152					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.454G>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095138	0.36952	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.06528	3.38;3.38;3.29;3.29	5.38	2.47	0.30058	.	0.154465	0.29932	U	0.010837	T	0.03915	0.0110	L	0.29908	0.895	0.20307	N	0.999915	P;P	0.38597	0.506;0.639	B;B	0.32928	0.074;0.155	T	0.40365	-0.9567	10	0.38643	T	0.18	-8.7332	5.3285	0.15920	0.0752:0.2671:0.52:0.1377	.	152;111	Q92954;Q92954-2	PRG4_HUMAN;.	Q	152;111;111;152	ENSP00000356456:E152Q;ENSP00000356454:E111Q;ENSP00000356453:E111Q;ENSP00000399679:E152Q	ENSP00000356453:E111Q	E	+	1	0	PRG4	184539997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.027000	0.41078	0.641000	0.30601	0.585000	0.79938	GAG		0.398	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		6	73	0	0	0	0.001168	0	6	73		
CFHR3	10878	broad.mit.edu	37	1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	rs574536456		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:196749062C>T	ENST00000367425.4	+	3	481	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M|CFHR3_ENST00000471440.2_Missense_Mutation_p.T130M	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473													-|||	1	0.000199681	0.0	0.0	5008	,	,		11779	0.0		0.0	False		,,,				2504	0.001					uc001gtl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(388-390)ACG>ATG		complement factor H-related 3 precursor							85.0	84.0	85.0					1																	196749062		1904	4137	6041	SO:0001583	missense	10878					extracellular space		g.chr1:196749062C>T	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.389C>T	1.37:g.196749062C>T	ENSP00000356395:p.Thr130Met					CFHR3_uc001gtk.2_Missense_Mutation_p.T130M|CFHR3_uc010poy.1_Missense_Mutation_p.T130M|CFHR1_uc001gtm.2_Intron	p.T130M	NM_021023	NP_066303	Q02985	FHR3_HUMAN			3	476	+			130			Sushi 2.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.389C>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648809	0.29336	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.65916	-0.18;-0.18;-0.18	3.67	2.74	0.32292	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69486	0.3116	M	0.79343	2.45	0.09310	N	1	P;D;P	0.60575	0.875;0.988;0.943	P;P;B	0.54889	0.598;0.763;0.258	T	0.57365	-0.7824	9	0.31617	T	0.26	.	7.6977	0.28604	0.0:0.8732:0.0:0.1268	.	130;130;130	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	M	130	ENSP00000356395:T130M;ENSP00000436258:T130M;ENSP00000375845:T130M	ENSP00000356395:T130M	T	+	2	0	CFHR3	195015685	0.132000	0.22450	0.037000	0.18230	0.005000	0.04900	1.146000	0.31589	0.653000	0.30826	0.398000	0.26397	ACG		0.473	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2		NM_021023		4	74	0	0	0	0.009096	0	4	74		
RNPEP	6051	broad.mit.edu	37	1	201972454	201972454	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201972454G>A	ENST00000295640.4	+	9	1559	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E467K|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	506					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.E506K(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAGCCTGCTGAAGAGCTAGC	0.582																																					GBM(19;39 479 7473 13131 19462)	uc001gxd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(1516-1518)GAA>AAA		arginyl aminopeptidase							68.0	61.0	64.0					1																	201972454		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972454G>A	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1516G>A	1.37:g.201972454G>A	ENSP00000295640:p.Glu506Lys					RNPEP_uc001gxe.2_Missense_Mutation_p.E207K|RNPEP_uc001gxf.2_Missense_Mutation_p.E375K	p.E506K	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1545	+			506					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1516G>A	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558546	0.45590	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.43688	0.94;0.94	5.57	4.65	0.58169	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.335153	0.30800	N	0.008841	T	0.47967	0.1474	L	0.59436	1.845	0.38911	D	0.957541	P;P	0.39809	0.689;0.689	P;P	0.51516	0.672;0.61	T	0.37776	-0.9691	10	0.20519	T	0.43	-18.2153	9.128	0.36828	0.1624:0.0:0.8376:0.0	.	514;506	Q7RU04;Q9H4A4	.;AMPB_HUMAN	K	506;467	ENSP00000295640:E506K;ENSP00000356255:E467K	ENSP00000295640:E506K	E	+	1	0	RNPEP	200239077	0.999000	0.42202	0.909000	0.35828	0.147000	0.21601	3.148000	0.50647	2.593000	0.87608	0.561000	0.74099	GAA		0.582	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1		NM_020216		14	16	0	0	0	0.00245	0	14	16		
ELF3	1999	broad.mit.edu	37	1	201981201	201981201	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:201981201C>G	ENST00000359651.3	+	2	3472	c.280C>G	c.(280-282)Cga>Gga	p.R94G	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R94G|ELF3_ENST00000367283.3_Missense_Mutation_p.R94G|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.R94G(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TGACTTCTCACGATGTGACAT	0.582																																						uc001gxg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(280-282)CGA>GGA		E74-like factor 3 (ets domain transcription							99.0	92.0	95.0					1																	201981201		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981201C>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.280C>G	1.37:g.201981201C>G	ENSP00000352673:p.Arg94Gly					ELF3_uc001gxi.3_Missense_Mutation_p.R94G|ELF3_uc001gxh.3_Missense_Mutation_p.R94G	p.R94G	NM_004433	NP_004424	P78545	ELF3_HUMAN			2	3472	+			94			PNT.			Missense_Mutation	SNP	ENST00000359651.3	37	c.280C>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	6.930	0.541214	0.13250	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.56	4.63	0.57726	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.540123	0.19917	N	0.103173	T	0.27489	0.0675	L	0.51422	1.61	0.09310	N	1	P	0.37038	0.579	B	0.39379	0.298	T	0.13335	-1.0513	10	0.27082	T	0.32	.	7.161	0.25664	0.1674:0.7234:0.0:0.1092	.	94	P78545	ELF3_HUMAN	G	94;94;94;94;92	ENSP00000352673:R94G;ENSP00000356253:R94G;ENSP00000356252:R94G;ENSP00000405162:R92G	ENSP00000311348:R94G	R	+	1	2	ELF3	200247824	0.914000	0.31030	0.042000	0.18584	0.206000	0.24218	1.768000	0.38511	1.298000	0.44778	0.591000	0.81541	CGA		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		7	83	0	0	0	0.00308	0	7	83		
USH2A	7399	broad.mit.edu	37	1	215812566	215812566	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:215812566C>G	ENST00000307340.3	-	69	15369	c.14983G>C	c.(14983-14985)Gtc>Ctc	p.V4995L	USH2A_ENST00000366943.2_Missense_Mutation_p.V4995L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4995					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V4995L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCAGATGACCTGGAAAAAG	0.403										HNSCC(13;0.011)																												uc001hku.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14983-14985)GTC>CTC		usherin isoform B							160.0	161.0	161.0					1																	215812566		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215812566C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14983G>C	1.37:g.215812566C>G	ENSP00000305941:p.Val4995Leu	HNSCC(13;0.011)					p.V4995L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	69	15370	-			4995			Fibronectin type-III 35.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14983G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138335	0.37728	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14144	2.53;2.54	5.18	4.27	0.50696	Fibronectin, type III (1);	0.198767	0.24115	U	0.041406	T	0.15696	0.0378	L	0.60455	1.87	0.41904	D	0.990434	B	0.30851	0.297	B	0.31614	0.133	T	0.02705	-1.1121	10	0.46703	T	0.11	.	11.0177	0.47698	0.0:0.8501:0.0:0.1499	.	4995	O75445	USH2A_HUMAN	L	4995	ENSP00000305941:V4995L;ENSP00000355910:V4995L	ENSP00000305941:V4995L	V	-	1	0	USH2A	213879189	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	2.257000	0.43240	1.177000	0.42855	0.655000	0.94253	GTC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		6	144	0	0	0	0.001168	0	6	144		
DISP1	84976	broad.mit.edu	37	1	223177617	223177617	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223177617G>C	ENST00000284476.6	+	8	3042	c.2878G>C	c.(2878-2880)Gaa>Caa	p.E960Q		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	960					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.E960Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCGGCCCCTGAAGGCCTCAG	0.507																																						uc001hnu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2878-2880)GAA>CAA		dispatched A							80.0	69.0	73.0					1																	223177617		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177617G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2878G>C	1.37:g.223177617G>C	ENSP00000284476:p.Glu960Gln						p.E960Q	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3025	+			960					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2878G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480180	0.44044	.	.	ENSG00000154309	ENST00000284476	D	0.91996	-2.95	5.84	4.93	0.64822	.	0.047041	0.85682	D	0.000000	D	0.86744	0.6006	N	0.24115	0.695	0.45025	D	0.998041	B	0.25667	0.131	B	0.32393	0.145	T	0.82063	-0.0643	10	0.18710	T	0.47	-36.5741	14.8467	0.70264	0.0688:0.0:0.9312:0.0	.	960	Q96F81	DISP1_HUMAN	Q	960	ENSP00000284476:E960Q	ENSP00000284476:E960Q	E	+	1	0	DISP1	221244240	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	6.471000	0.73562	1.485000	0.48380	0.561000	0.74099	GAA		0.507	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		3	47	0	0	0	0.004672	0	3	47		
TLR5	7100	broad.mit.edu	37	1	223285979	223285979	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:223285979G>C	ENST00000540964.1	-	4	856	c.395C>G	c.(394-396)tCt>tGt	p.S132C	TLR5_ENST00000342210.6_Missense_Mutation_p.S132C			O60602	TLR5_HUMAN	toll-like receptor 5	132					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.S132C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TACAGCATCAGAGAGACCACA	0.383																																						uc001hnv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(394-396)TCT>TGT		toll-like receptor 5 precursor							91.0	89.0	90.0					1																	223285979		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285979G>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.395C>G	1.37:g.223285979G>C	ENSP00000440643:p.Ser132Cys					TLR5_uc001hnw.1_Missense_Mutation_p.S132C	p.S132C	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	841	-			132			Extracellular (Potential).		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.395C>G	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872823	0.33069	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.84730	-1.89;-1.89;-1.89	5.03	5.03	0.67393	.	0.485132	0.20951	N	0.082751	D	0.88782	0.6530	M	0.72894	2.215	0.09310	N	1	D	0.61080	0.989	P	0.58780	0.845	T	0.82214	-0.0568	10	0.72032	D	0.01	.	8.7186	0.34428	0.0:0.1496:0.5914:0.2589	.	132	O60602	TLR5_HUMAN	C	132	ENSP00000440643:S132C;ENSP00000355846:S132C;ENSP00000340089:S132C	ENSP00000340089:S132C	S	-	2	0	TLR5	221352602	0.163000	0.22920	0.943000	0.38184	0.477000	0.33069	1.831000	0.39141	2.483000	0.83821	0.655000	0.94253	TCT		0.383	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003268		7	91	0	0	0	0.00308	0	7	91		
SLC35F3	148641	broad.mit.edu	37	1	234367379	234367379	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:234367379T>C	ENST00000366617.3	+	2	521	c.293T>C	c.(292-294)tTc>tCc	p.F98S	SLC35F3_ENST00000366618.3_Missense_Mutation_p.F167S			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	98					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.F167S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GACGCGCCCTTCACCCTCACG	0.587																																						uc001hwa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(292-294)TTC>TCC		solute carrier family 35, member F3							178.0	155.0	163.0					1																	234367379		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367379T>C		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.293T>C	1.37:g.234367379T>C	ENSP00000355576:p.Phe98Ser					SLC35F3_uc001hvy.1_Missense_Mutation_p.F167S	p.F98S	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	521	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	98			Helical; (Potential).		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.293T>C		.	.	.	.	.	.	.	.	.	.	T	28.9	4.961761	0.92791	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.56103	0.53;0.48	4.71	4.71	0.59529	.	0.046747	0.85682	D	0.000000	T	0.71871	0.3391	M	0.76838	2.35	0.58432	D	0.999999	D;P	0.76494	0.999;0.937	D;P	0.80764	0.994;0.529	T	0.75351	-0.3348	10	0.54805	T	0.06	-30.4438	14.3213	0.66489	0.0:0.0:0.0:1.0	.	98;167	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	S	167;98	ENSP00000355577:F167S;ENSP00000355576:F98S	ENSP00000355576:F98S	F	+	2	0	SLC35F3	232434002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.260000	0.78391	1.959000	0.56917	0.482000	0.46254	TTC		0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1		NM_173508		17	134	0	0	0	0.007413	0	17	134		
CNST	163882	broad.mit.edu	37	1	246754982	246754982	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246754982G>C	ENST00000366513.4	+	2	387	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	CNST_ENST00000366512.3_Missense_Mutation_p.E40Q|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	40					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.E40Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGATGAAAATGAAAATCAGCT	0.478																																						uc001ibp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(118-120)GAA>CAA		hypothetical protein LOC163882 isoform 1							140.0	123.0	129.0					1																	246754982		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246754982G>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.118G>C	1.37:g.246754982G>C	ENSP00000355470:p.Glu40Gln					CNST_uc001ibo.3_Missense_Mutation_p.E40Q	p.E40Q	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			2	496	+			40					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.118G>C	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969288	0.92855	.	.	ENSG00000162852	ENST00000366513;ENST00000366512;ENST00000366511	T;T;T	0.26067	1.76;1.76;1.76	6.17	6.17	0.99709	.	0.065178	0.64402	D	0.000008	T	0.52996	0.1769	M	0.72894	2.215	0.43517	D	0.99578	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49312	-0.8953	10	0.72032	D	0.01	-16.6538	18.0353	0.89301	0.0:0.0:1.0:0.0	.	40;40	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	Q	40	ENSP00000355470:E40Q;ENSP00000355469:E40Q;ENSP00000355468:E40Q	ENSP00000355468:E40Q	E	+	1	0	CNST	244821605	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.332000	0.72934	2.941000	0.99782	0.655000	0.94253	GAA		0.478	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609		7	77	0	0	0	0.004482	0	7	77		
CNST	163882	broad.mit.edu	37	1	246829073	246829073	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:246829073G>A	ENST00000366513.4	+	11	2313	c.2044G>A	c.(2044-2046)Gga>Aga	p.G682R		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	682					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.G682R(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGTGTTGGAGGAACTGCATT	0.443																																						uc001ibp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2044-2046)GGA>AGA		hypothetical protein LOC163882 isoform 1							206.0	179.0	188.0					1																	246829073		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246829073G>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.2044G>A	1.37:g.246829073G>A	ENSP00000355470:p.Gly682Arg						p.G682R	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			11	2422	+			682			Helical; (Potential).		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.2044G>A	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566328	0.86439	.	.	ENSG00000162852	ENST00000366513	T	0.64618	-0.11	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81747	-0.0791	10	0.59425	D	0.04	-26.5334	19.6373	0.95740	0.0:0.0:1.0:0.0	.	682	Q6PJW8	CNST_HUMAN	R	682	ENSP00000355470:G682R	ENSP00000355470:G682R	G	+	1	0	CNST	244895696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.636000	0.89361	0.655000	0.94253	GGA		0.443	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609		5	100	0	0	0	0.000602	0	5	100		
OR11L1	391189	broad.mit.edu	37	1	248004359	248004359	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248004359C>A	ENST00000355784.2	-	1	895	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	280						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGTGTGACCACAGTGTAGA	0.443																																						uc001idn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(838-840)GTG>GTT		olfactory receptor, family 11, subfamily L,							104.0	96.0	99.0					1																	248004359		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004359C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.840G>T	1.37:g.248004359C>A							p.V280V	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	840	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		280			Helical; Name=7; (Potential).			Silent	SNP	ENST00000355784.2	37	c.840G>T	CCDS31098.1																																																																																				0.443	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1		NM_001001959		23	65	1	0	1.9806e-07	0.002299	2.11737e-07	23	65		
USP6NL	9712	broad.mit.edu	37	10	11505382	11505382	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:11505382G>A	ENST00000609104.1	-	15	1939	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	USP6NL_ENST00000277575.5_Silent_p.L532L|USP6NL_ENST00000379237.2_Silent_p.L538L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	515					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.L532L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGGTAACTGCGAGCGCGGGGT	0.587																																						uc001ikt.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1543-1545)CTC>CTT		USP6 N-terminal like isoform 1							120.0	122.0	122.0					10																	11505382		2060	4184	6244	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505382G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1545C>T	10.37:g.11505382G>A						USP6NL_uc001iks.1_Silent_p.L532L	p.L515L	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1866	-			515					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1545C>T	CCDS53492.1																																																																																				0.587	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3		NM_014688		23	145	0	0	0	0.00333	0	23	145		
CUBN	8029	broad.mit.edu	37	10	16911847	16911847	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:16911847C>G	ENST00000377833.4	-	59	9307	c.9242G>C	c.(9241-9243)aGt>aCt	p.S3081T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3081	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3081T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAAAATCACTGAACCTGTG	0.413																																						uc001ioo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9241-9243)AGT>ACT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101.0	95.0	97.0					10																	16911847		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911847C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9242G>C	10.37:g.16911847C>G	ENSP00000367064:p.Ser3081Thr					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.S437T	p.S3081T	NM_001081	NP_001072	O60494	CUBN_HUMAN			59	9294	-			3081			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9242G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643400	0.14451	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.69	-4.73	0.03259	CUB (5);	0.599139	0.15107	N	0.280207	T	0.07234	0.0183	N	0.17922	0.545	0.36281	D	0.855777	B	0.06786	0.001	B	0.06405	0.002	T	0.45440	-0.9261	10	0.07482	T	0.82	.	9.3249	0.37986	0.1084:0.211:0.0:0.6806	.	3081	O60494	CUBN_HUMAN	T	3081	ENSP00000367064:S3081T	ENSP00000367064:S3081T	S	-	2	0	CUBN	16951853	0.053000	0.20554	0.486000	0.27416	0.953000	0.61014	-0.207000	0.09384	-0.657000	0.05373	-0.345000	0.07892	AGT		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		12	64	0	0	0	0.001368	0	12	64		
CSTF2T	23283	broad.mit.edu	37	10	53458275	53458275	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:53458275G>C	ENST00000331173.4	-	1	1080	c.1035C>G	c.(1033-1035)gtC>gtG	p.V345V	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	345	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V345V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTTCTCCAGTGACTGAAAGCA	0.582																																						uc001jjp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1033-1035)GTC>GTG		cleavage stimulation factor, 3' pre-RNA, subunit							64.0	61.0	62.0					10																	53458275		2203	4300	6503	SO:0001819	synonymous_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458275G>C	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1035C>G	10.37:g.53458275G>C						PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.V345V	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1081	-			345			Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Silent	SNP	ENST00000331173.4	37	c.1035C>G	CCDS7245.1																																																																																				0.582	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1		NM_015235		20	73	0	0	0	0.008871	0	20	73		
KAT6B	23522	broad.mit.edu	37	10	76781861	76781861	+	Missense_Mutation	SNP	G	G	C	rs201769534		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:76781861G>C	ENST00000287239.4	+	16	3733	c.3244G>C	c.(3244-3246)Gaa>Caa	p.E1082Q	KAT6B_ENST00000372714.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372725.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E899Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.E790Q|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1082	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1082Q(1)									ggaggaggaagaagaggagga	0.522											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jwn.1		NaN								T					CREBBP		AML		1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(3244-3246)GAA>CAA		MYST histone acetyltransferase (monocytic							27.0	25.0	26.0					10																	76781861		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781861G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3244G>C	10.37:g.76781861G>C	ENSP00000287239:p.Glu1082Gln		OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	MYST4_uc001jwm.1_Missense_Mutation_p.E790Q|MYST4_uc001jwo.1_Missense_Mutation_p.E790Q|MYST4_uc001jwp.1_Missense_Mutation_p.E899Q	p.E1082Q	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			16	3737	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1082			Poly-Glu.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3244G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162275	0.21538	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77877	2.13;2.13;0.07;2.13;-1.13	6.08	6.08	0.98989	.	0.000000	0.49305	D	0.000148	T	0.67571	0.2907	N	0.03608	-0.345	0.54753	D	0.999982	P;P;P	0.37370	0.592;0.592;0.457	P;P;B	0.45406	0.479;0.479;0.287	T	0.69793	-0.5049	10	0.35671	T	0.21	-6.0195	18.8453	0.92203	0.0:0.0:1.0:0.0	.	899;790;1082	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	790;790;1082;790;899	ENSP00000361810:E790Q;ENSP00000361809:E790Q;ENSP00000287239:E1082Q;ENSP00000361799:E790Q;ENSP00000361796:E899Q	ENSP00000287239:E1082Q	E	+	1	0	KAT6B	76451867	0.991000	0.36638	0.737000	0.30932	0.004000	0.04260	3.041000	0.49807	2.890000	0.99128	0.655000	0.94253	GAA		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330		3	67	0	0	0	0.004672	0	3	67		
CYP26A1	1592	broad.mit.edu	37	10	94836385	94836385	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:94836385G>C	ENST00000224356.4	+	6	1129	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	CYP26A1_ENST00000394139.1_Missense_Mutation_p.E293Q|CYP26A1_ENST00000371531.1_Missense_Mutation_p.E293Q	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	362					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.E293Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	TGTTATTAAGGAGACCCTTCG	0.388																																						uc001kil.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1084-1086)GAG>CAG		cytochrome P450, family 26, subfamily A,							105.0	107.0	106.0					10																	94836385		2203	4300	6503	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836385G>C	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1084G>C	10.37:g.94836385G>C	ENSP00000224356:p.Glu362Gln					CYP26A1_uc001kik.1_Missense_Mutation_p.E293Q|CYP26A1_uc001kim.1_Missense_Mutation_p.E260Q	p.E362Q	NM_000783	NP_000774	O43174	CP26A_HUMAN			6	1129	+		Colorectal(252;0.122)	362					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.1084G>C	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285138	0.80803	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	D;D;D	0.97114	-4.25;-4.25;-4.25	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99497	1.0952	10	0.87932	D	0	-26.2949	19.0466	0.93022	0.0:0.0:1.0:0.0	.	293;362	B3KNI4;O43174	.;CP26A_HUMAN	Q	293;362;293	ENSP00000360586:E293Q;ENSP00000224356:E362Q;ENSP00000377695:E293Q	ENSP00000224356:E362Q	E	+	1	0	CYP26A1	94826375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.069000	0.93967	2.742000	0.94016	0.650000	0.86243	GAG		0.388	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3				22	77	0	0	0	0.00278	0	22	77		
TCTN3	26123	broad.mit.edu	37	10	97446269	97446269	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97446269C>G	ENST00000371217.5	-	7	894	c.871G>C	c.(871-873)Gat>Cat	p.D291H	TCTN3_ENST00000265993.9_Missense_Mutation_p.D309H|TCTN3_ENST00000371209.5_Missense_Mutation_p.D291H|TCTN3_ENST00000430368.2_Missense_Mutation_p.D212H			Q6NUS6	TECT3_HUMAN	tectonic family member 3	291					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D291H(2)|p.D140H(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TTCTGTGGATCAGTCATGCTT	0.398																																						uc001klb.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(871-873)GAT>CAT		tectonic 3 isoform a precursor							119.0	112.0	114.0					10																	97446269		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97446269C>G	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.871G>C	10.37:g.97446269C>G	ENSP00000360261:p.Asp291His					TCTN3_uc001kla.3_Missense_Mutation_p.D140H|TCTN3_uc010qoi.1_Missense_Mutation_p.D212H|TCTN3_uc001kld.2_Missense_Mutation_p.D309H|TCTN3_uc009xux.1_Missense_Mutation_p.D140H|TCTN3_uc009xuy.1_RNA	p.D291H	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	7	1115	-		Colorectal(252;0.0815)	291			Extracellular (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.871G>C	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	C	5.366	0.252849	0.10185	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162;ENST00000371209	D;D	0.83591	-1.74;-1.74	5.38	4.48	0.54585	Domain of unknown function DUF1619 (1);	0.287308	0.25166	N	0.032621	T	0.81945	0.4930	M	0.74258	2.255	0.26405	N	0.976362	P;B;B;B	0.35844	0.524;0.062;0.079;0.034	B;B;B;B	0.37943	0.261;0.035;0.057;0.015	T	0.75811	-0.3186	10	0.48119	T	0.1	-20.639	9.8682	0.41157	0.0:0.9089:0.0:0.0911	.	212;291;291;140	B4DR81;Q6NUS6-2;Q6NUS6;Q6NUS6-3	.;.;TECT3_HUMAN;.	H	291;212;309;140;291	ENSP00000265993:D291H;ENSP00000360253:D291H	ENSP00000265993:D291H	D	-	1	0	TCTN3	97436259	1.000000	0.71417	0.997000	0.53966	0.141000	0.21300	1.940000	0.40223	1.505000	0.48720	0.655000	0.94253	GAT		0.398	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1		NM_015631		14	155	0	0	0	0.00245	0	14	155		
CC2D2B	387707	broad.mit.edu	37	10	97775978	97775978	+	Silent	SNP	C	C	T	rs536543614		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:97775978C>T	ENST00000344386.3	+	6	593	c.429C>T	c.(427-429)atC>atT	p.I143I	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.I143I|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	143								p.I143I(2)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		GTTTAGCTATCGGAAATAAGG	0.418																																						uc001kll.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(427-429)ATC>ATT		coiled-coil and C2 domain containing 2B isoform							91.0	84.0	87.0					10																	97775978		1872	4097	5969	SO:0001819	synonymous_variant	387707							g.chr10:97775978C>T	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.429C>T	10.37:g.97775978C>T						uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Silent_p.I143I	p.I143I	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	6	628	+		Colorectal(252;0.158)	143					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.429C>T	CCDS41555.1																																																																																				0.418	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3		NM_001001732		15	51	0	0	0	0.004007	0	15	51		
SEC31B	25956	broad.mit.edu	37	10	102265919	102265919	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102265919C>G	ENST00000370345.3	-	9	1019	c.922G>C	c.(922-924)Gat>Cat	p.D308H	SEC31B_ENST00000451524.1_Missense_Mutation_p.D308H|SEC31B_ENST00000370329.5_Missense_Mutation_p.D311H|SEC31B_ENST00000535773.1_Missense_Mutation_p.D151H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	308					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.D308H(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACTGCACATCAAAGCACCAG	0.517																																						uc001krc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(922-924)GAT>CAT		SEC31 homolog B							142.0	127.0	132.0					10																	102265919		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265919C>G	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.922G>C	10.37:g.102265919C>G	ENSP00000359370:p.Asp308His					SEC31B_uc010qpo.1_Missense_Mutation_p.D307H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.D311H|SEC31B_uc009xwn.1_Missense_Mutation_p.D308H|SEC31B_uc009xwo.1_Missense_Mutation_p.D308H|SEC31B_uc010qpq.1_Missense_Mutation_p.D151H	p.D308H	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	9	1024	-		Colorectal(252;0.117)	308			WD 6.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.922G>C	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117001	0.94385	.	.	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	T;T;T;T	0.71341	1.47;1.47;-0.56;1.47	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.184300	0.56097	D	0.000030	D	0.86335	0.5908	M	0.89163	3.01	0.80722	D	1	D;D;D;P;P	0.63046	0.992;0.961;0.958;0.921;0.93	P;P;D;P;P	0.63957	0.895;0.738;0.92;0.67;0.786	D	0.88186	0.2874	10	0.87932	D	0	-4.4489	19.0544	0.93058	0.0:1.0:0.0:0.0	.	308;311;307;308;308	A8KAL6;B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;.;SC31B_HUMAN	H	308;308;151;311	ENSP00000359370:D308H;ENSP00000391178:D308H;ENSP00000442621:D151H;ENSP00000359354:D311H	ENSP00000359354:D311H	D	-	1	0	SEC31B	102255909	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	7.758000	0.85224	2.826000	0.97356	0.561000	0.74099	GAT		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1		NM_015490		12	98	0	0	0	0.000978	0	12	98		
FAM178A	55719	broad.mit.edu	37	10	102676898	102676898	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:102676898G>C	ENST00000238961.4	+	3	1298	c.756G>C	c.(754-756)ttG>ttC	p.L252F	FAM178A_ENST00000370271.3_Missense_Mutation_p.L252F|FAM178A_ENST00000370269.3_Missense_Mutation_p.L252F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	252						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L252F(1)									TAAAGAGGTTGAGAAAGGAGC	0.438																																						uc001krt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(754-756)TTG>TTC		hypothetical protein LOC55719 isoform 1							63.0	66.0	65.0					10																	102676898		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676898G>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.756G>C	10.37:g.102676898G>C	ENSP00000238961:p.Leu252Phe					FAM178A_uc001krr.1_Missense_Mutation_p.L252F|FAM178A_uc001krs.2_Missense_Mutation_p.L252F|FAM178A_uc001kru.1_Missense_Mutation_p.L188F	p.L252F	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			3	1298	+			252					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.756G>C	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395008	0.42512	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53857	0.6;1.25;1.24	5.8	2.91	0.33838	.	0.318283	0.22784	N	0.055691	T	0.45034	0.1322	N	0.24115	0.695	0.29975	N	0.818254	B;B;D	0.56746	0.003;0.005;0.977	B;B;P	0.53593	0.005;0.005;0.73	T	0.40534	-0.9558	10	0.41790	T	0.15	-3.1367	6.289	0.21049	0.1575:0.2865:0.556:0.0	.	252;252;252	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	F	252	ENSP00000359294:L252F;ENSP00000238961:L252F;ENSP00000359292:L252F	ENSP00000238961:L252F	L	+	3	2	FAM178A	102666888	0.970000	0.33590	0.995000	0.50966	0.980000	0.70556	0.107000	0.15375	0.356000	0.24157	0.650000	0.86243	TTG		0.438	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3				12	76	0	0	0	0.001855	0	12	76		
GBF1	8729	broad.mit.edu	37	10	104139673	104139673	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:104139673G>C	ENST00000369983.3	+	36	5097	c.4837G>C	c.(4837-4839)Gag>Cag	p.E1613Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1613					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1613Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGGTGGGATGGAGGAGACCCG	0.547																																						uc001kux.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(4837-4839)GAG>CAG		golgi-specific brefeldin A resistant guanine							94.0	87.0	89.0					10																	104139673		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104139673G>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4837G>C	10.37:g.104139673G>C	ENSP00000359000:p.Glu1613Gln					GBF1_uc001kuy.1_Missense_Mutation_p.E1609Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1610Q	p.E1613Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	36	5077	+		Colorectal(252;0.0236)	1613					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4837G>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556746	0.86231	.	.	ENSG00000107862	ENST00000369983	T	0.13420	2.59	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.998;0.983;0.979	T	0.33675	-0.9859	10	0.72032	D	0.01	-16.8843	18.6404	0.91393	0.0:0.0:1.0:0.0	.	1609;1609;1613	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	1613	ENSP00000359000:E1613Q	ENSP00000359000:E1613Q	E	+	1	0	GBF1	104129663	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.385000	0.97223	2.625000	0.88918	0.655000	0.94253	GAG		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				6	32	0	0	0	0.001984	0	6	32		
SH3PXD2A	9644	broad.mit.edu	37	10	105495508	105495508	+	Silent	SNP	G	G	T	rs200859749		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:105495508G>T	ENST00000369774.4	-	4	564	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SH3PXD2A_ENST00000355946.2_Silent_p.P96P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.P96P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATTCATCGATGGGCTTCAGTC	0.582																																						uc001kxj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(286-288)CCC>CCA		SH3 multiple domains 1							135.0	137.0	137.0					10																	105495508		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105495508G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.288C>A	10.37:g.105495508G>T						SH3PXD2A_uc010qqu.1_Silent_p.P26P	p.P96P	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	4	428	-		Colorectal(252;0.0815)|Breast(234;0.131)	96			PX.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.288C>A		.	.	.	.	.	.	.	.	.	.	G	8.775	0.926807	0.18056	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.84	3.98	0.46160	.	.	.	.	.	T	0.69584	0.3127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67662	-0.5613	4	.	.	.	-31.6299	14.4117	0.67119	0.0797:0.0:0.9203:0.0	.	.	.	.	N	51	.	.	H	-	1	0	SH3PXD2A	105485498	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.519000	0.53458	0.803000	0.34113	-1.300000	0.01332	CAT		0.582	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1		NM_014631		25	112	1	0	4.67007e-22	0.00874	5.20557e-22	25	112		
GRK5	2869	broad.mit.edu	37	10	121156215	121156215	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121156215T>A	ENST00000392870.2	+	4	599	c.270T>A	c.(268-270)taT>taA	p.Y90*	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	90	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.Y90*(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGGCAGAATATGAAGTTACTC	0.438																																						uc001led.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|stomach(1)	3						c.(268-270)TAT>TAA		G protein-coupled receptor kinase 5							100.0	103.0	102.0					10																	121156215		2203	4300	6503	SO:0001587	stop_gained	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121156215T>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.270T>A	10.37:g.121156215T>A	ENSP00000376609:p.Tyr90*					GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	p.Y90*	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	4	503	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	90			N-terminal.|RGS.		D3DRD0|Q5T059	Nonsense_Mutation	SNP	ENST00000392870.2	37	c.270T>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	T	38	7.158016	0.98103	.	.	ENSG00000198873	ENST00000392870	.	.	.	5.32	2.97	0.34412	.	0.000000	0.45867	U	0.000333	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1745	9.0723	0.36500	0.0:0.142:0.0:0.858	.	.	.	.	X	90	.	ENSP00000376609:Y90X	Y	+	3	2	GRK5	121146205	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.580000	0.53907	0.335000	0.23614	0.482000	0.46254	TAT		0.438	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2		NM_005308		4	87	0	0	0	0.000602	0	4	87		
INPP5F	22876	broad.mit.edu	37	10	121541205	121541205	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:121541205A>G	ENST00000361976.2	+	3	403	c.237A>G	c.(235-237)ggA>ggG	p.G79G	INPP5F_ENST00000369083.3_Silent_p.G79G|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.G79G(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AACTCCCAGGAGACCATGAGG	0.423																																						uc001leo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(235-237)GGA>GGG		inositol polyphosphate-5-phosphatase F							80.0	76.0	78.0					10																	121541205		2203	4300	6503	SO:0001819	synonymous_variant	22876						phosphoric ester hydrolase activity	g.chr10:121541205A>G	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.237A>G	10.37:g.121541205A>G						INPP5F_uc001len.3_Silent_p.G79G	p.G79G	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	3	403	+		Lung NSC(174;0.109)|all_lung(145;0.142)	79					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000361976.2	37	c.237A>G	CCDS7616.1																																																																																				0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		NM_014937		19	68	0	0	0	0.006122	0	19	68		
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:721618G>A	ENST00000533256.1	+	11	1197	c.822G>A	c.(820-822)caG>caA	p.Q274Q	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.Q274Q|EPS8L2_ENST00000318562.8_Silent_p.Q274Q|EPS8L2_ENST00000526198.1_Silent_p.Q290Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	274					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.Q274Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.647																																						uc001lqt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(820-822)CAG>CAA		epidermal growth factor receptor pathway							20.0	30.0	27.0					11																	721618		2175	4268	6443	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:721618G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.822G>A	11.37:g.721618G>A						EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	p.Q274Q	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1069	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	274					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.822G>A	CCDS31328.1																																																																																				0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		NM_022772		6	5	0	0	0	0.001984	0	6	5		
OR10A5	144124	broad.mit.edu	37	11	6867721	6867721	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:6867721G>C	ENST00000299454.4	+	1	839	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.E274Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E270Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAATTCTCCTGAGAGCAAGAA	0.423																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(808-810)GAG>CAG		olfactory receptor, family 10, subfamily A,							163.0	165.0	164.0					11																	6867721		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867721G>C	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.808G>C	11.37:g.6867721G>C	ENSP00000299454:p.Glu270Gln						p.E270Q	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	808	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	270			Extracellular (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.808G>C	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238928	0.22711	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00123	8.7;8.7	3.59	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.317486	0.26944	N	0.021716	T	0.00178	0.0005	L	0.33753	1.03	0.26685	N	0.971474	P	0.37158	0.585	P	0.52386	0.697	T	0.26608	-1.0098	10	0.37606	T	0.19	.	4.5671	0.12191	0.1154:0.0:0.6679:0.2167	.	270	Q9H207	O10A5_HUMAN	Q	270;274	ENSP00000299454:E270Q;ENSP00000369159:E274Q	ENSP00000299454:E270Q	E	+	1	0	OR10A5	6824297	0.003000	0.15002	0.998000	0.56505	0.377000	0.30045	0.465000	0.22004	1.066000	0.40716	0.591000	0.81541	GAG		0.423	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1		NM_178168		59	171	0	0	0	0.00361	0	59	171		
LDHAL6A	160287	broad.mit.edu	37	11	18487256	18487256	+	Missense_Mutation	SNP	G	G	A	rs375489223		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:18487256G>A	ENST00000280706.2	+	3	1114	c.317G>A	c.(316-318)cGc>cAc	p.R106H	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R106H	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	106					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.R106H(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						GGAGAAACACGCCTTGATTTA	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18616	0.0		0.0	False		,,,				2504	0.0					uc001mop.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(316-318)CGC>CAC		lactate dehydrogenase A-like 6A	NADH(DB00157)	G	HIS/ARG,HIS/ARG	1,4397	2.1+/-5.4	0,1,2198	137.0	134.0	135.0		317,317	-0.5	0.0	11		135	0,8586		0,0,4293	no	missense,missense	LDHAL6A	NM_001144071.1,NM_144972.4	29,29	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	106/333,106/333	18487256	1,12983	2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18487256G>A	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.317G>A	11.37:g.18487256G>A	ENSP00000280706:p.Arg106His					LDHAL6A_uc001moq.2_Missense_Mutation_p.R106H	p.R106H	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN			4	578	+			106				Substrate (By similarity).	D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.317G>A	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827941	0.71143	2.27E-4	0.0	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.97066	-4.23;-4.23	4.36	-0.473	0.12112	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000002	D	0.98460	0.9487	H	0.95745	3.715	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.97332	0.9951	10	0.87932	D	0	.	8.2465	0.31691	0.4343:0.0:0.5657:0.0	.	106	Q6ZMR3	LDH6A_HUMAN	H	106	ENSP00000379516:R106H;ENSP00000280706:R106H	ENSP00000280706:R106H	R	+	2	0	LDHAL6A	18443832	0.926000	0.31397	0.011000	0.14972	0.998000	0.95712	2.371000	0.44248	-0.121000	0.11787	0.585000	0.79938	CGC		0.388	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1		NM_144972		10	124	0	0	0	0.006214	0	10	124		
MYBPC3	4607	broad.mit.edu	37	11	47364473	47364473	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:47364473G>A	ENST00000545968.1	-	16	1419	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	MYBPC3_ENST00000399249.2_Silent_p.L455L|MYBPC3_ENST00000256993.4_Silent_p.L454L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	455	Ig-like C2-type 3.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L455L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCGCGTGATGAGCACAGGGG	0.632																																						uc001nfa.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1363-1365)CTC>CTT		myosin binding protein C, cardiac							62.0	63.0	63.0					11																	47364473		2058	4174	6232	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364473G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1365C>T	11.37:g.47364473G>A						MYBPC3_uc010rhl.1_RNA	p.L455L	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	15	1420	-			454			Ig-like C2-type 3.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.1365C>T	CCDS53621.1																																																																																				0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3				3	10	0	0	0	0.004672	0	3	10		
OR5AK2	390181	broad.mit.edu	37	11	56756546	56756546	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:56756546C>G	ENST00000326855.2	+	1	200	c.158C>G	c.(157-159)tCc>tGc	p.S53C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AACACAGATTCCAGATTTCAA	0.378																																						uc010rjp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(157-159)TCC>TGC		olfactory receptor, family 5, subfamily AK,							119.0	106.0	110.0					11																	56756546		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756546C>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.158C>G	11.37:g.56756546C>G	ENSP00000322784:p.Ser53Cys						p.S53C	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			1	158	+			53			Cytoplasmic (Potential).		B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.158C>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812551	0.16537	.	.	ENSG00000181273	ENST00000326855	T	0.02032	4.49	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.448404	0.16556	U	0.209274	T	0.11110	0.0271	M	0.86953	2.85	0.09310	N	1	D	0.71674	0.998	P	0.60345	0.873	T	0.02668	-1.1126	10	0.87932	D	0	-14.6541	10.0046	0.41949	0.2024:0.7976:0.0:0.0	.	53	Q8NH90	O5AK2_HUMAN	C	53	ENSP00000322784:S53C	ENSP00000322784:S53C	S	+	2	0	OR5AK2	56513122	0.000000	0.05858	0.253000	0.24343	0.265000	0.26407	-0.785000	0.04628	2.038000	0.60285	0.194000	0.17425	TCC		0.378	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1		NM_001005323		79	57	0	0	0	0.00361	0	79	57		
TNKS1BP1	85456	broad.mit.edu	37	11	57080263	57080263	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57080263G>A	ENST00000532437.1	-	4	2210	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	TNKS1BP1_ENST00000358252.3_Silent_p.L633L|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	633	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L633L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CATCAGCAAAGAGAACACAGG	0.662																																						uc001njr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1897-1899)CTC>CTT		tankyrase 1-binding protein 1							35.0	39.0	38.0					11																	57080263		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080263G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1899C>T	11.37:g.57080263G>A						TNKS1BP1_uc001njs.2_Silent_p.L633L|TNKS1BP1_uc009ymd.1_Silent_p.L84L	p.L633L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	2211	-		all_epithelial(135;0.21)	633			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.1899C>T	CCDS7951.1																																																																																				0.662	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		10	24	0	0	0	0.003163	0	10	24		
OR9Q1	219956	broad.mit.edu	37	11	57946980	57946980	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57946980G>A	ENST00000335397.3	+	3	380	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E22K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAATATCCTGAATGGGCACT	0.453																																						uc001nmj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(64-66)GAA>AAA		olfactory receptor, family 9, subfamily Q,							227.0	210.0	216.0					11																	57946980		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57946980G>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.64G>A	11.37:g.57946980G>A	ENSP00000334934:p.Glu22Lys						p.E22K	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	380	+		Breast(21;0.222)	22			Extracellular (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.64G>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553896	0.45487	.	.	ENSG00000186509	ENST00000335397	T	0.00457	7.29	4.75	2.84	0.33178	.	0.408106	0.20556	N	0.090016	T	0.00384	0.0012	L	0.60957	1.885	0.09310	N	1	P	0.36990	0.577	B	0.32864	0.154	T	0.48222	-0.9054	10	0.44086	T	0.13	-1.7575	5.9079	0.19010	0.0774:0.136:0.6462:0.1404	.	22	Q8NGQ5	OR9Q1_HUMAN	K	22	ENSP00000334934:E22K	ENSP00000334934:E22K	E	+	1	0	OR9Q1	57703556	0.001000	0.12720	0.018000	0.16275	0.432000	0.31715	0.729000	0.26028	0.707000	0.31934	0.563000	0.77884	GAA		0.453	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2		NM_001005212		10	144	0	0	0	0.008291	0	10	144		
OR9Q2	219957	broad.mit.edu	37	11	57958572	57958572	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:57958572C>G	ENST00000311591.3	+	1	667	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGTGTTTGCTCTTTTCGTCAT	0.473																																						uc010rka.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(610-612)CTT>GTT		olfactory receptor, family 9, subfamily Q,							191.0	191.0	191.0					11																	57958572		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958572C>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.610C>G	11.37:g.57958572C>G	ENSP00000308714:p.Leu204Val						p.L204V	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	610	+		Breast(21;0.0589)	204			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.610C>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066066	0.08388	.	.	ENSG00000186513	ENST00000311591	T	0.36520	1.25	4.95	-2.53	0.06326	GPCR, rhodopsin-like superfamily (1);	1.248250	0.05704	N	0.594634	T	0.09730	0.0239	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17319	-1.0373	10	0.66056	D	0.02	-0.0292	1.2529	0.01985	0.1976:0.3408:0.2534:0.2082	.	204	Q8NGE9	OR9Q2_HUMAN	V	204	ENSP00000308714:L204V	ENSP00000308714:L204V	L	+	1	0	OR9Q2	57715148	0.000000	0.05858	0.686000	0.30086	0.436000	0.31835	-1.110000	0.03306	-0.502000	0.06596	-0.232000	0.12228	CTT		0.473	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1		NM_001005283		35	25	0	0	0	0.004289	0	35	25		
NRXN2	9379	broad.mit.edu	37	11	64427940	64427940	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64427940C>T	ENST00000377551.1	-	10	2464	c.2253G>A	c.(2251-2253)acG>acA	p.T751T	NRXN2_ENST00000409571.1_Silent_p.T744T|NRXN2_ENST00000265459.6_Silent_p.T751T|NRXN2_ENST00000377559.3_Silent_p.T720T|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000496291.1_5'Flank			Q9P2S2	NRX2A_HUMAN	neurexin 2	751	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.T751T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCTGCCTCCGTGTGCATGG	0.602																																						uc001oar.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2251-2253)ACG>ACA		neurexin 2 isoform alpha-1 precursor							155.0	115.0	128.0					11																	64427940		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64427940C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2253G>A	11.37:g.64427940C>T						NRXN2_uc001oas.2_Silent_p.T720T|NRXN2_uc001oaq.2_Silent_p.T418T	p.T751T	NM_015080	NP_055895	P58401	NRX2B_HUMAN			12	2692	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.2253G>A	CCDS8077.1																																																																																				0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		5	35	0	0	0	0.000602	0	5	35		
RASGRP2	10235	broad.mit.edu	37	11	64502637	64502637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:64502637G>A	ENST00000354024.3	-	12	1611	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	RASGRP2_ENST00000394432.3_Silent_p.I453I|RASGRP2_ENST00000377497.3_Silent_p.I453I|RASGRP2_ENST00000377494.1_Silent_p.I453I	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	453	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.I515I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCCACGGATGATCTGGAATT	0.602																																						uc009ypu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1357-1359)ATC>ATT		RAS guanyl releasing protein 2							134.0	107.0	116.0					11																	64502637		2201	4297	6498	SO:0001819	synonymous_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64502637G>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1359C>T	11.37:g.64502637G>A						RASGRP2_uc001oat.2_Silent_p.I355I|RASGRP2_uc001oau.2_Silent_p.I308I|RASGRP2_uc009ypv.2_Silent_p.I453I|RASGRP2_uc009ypw.2_Silent_p.I453I	p.I453I	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			12	1586	-			453			EF-hand 1.		A6NDC7|O00538|Q9UL65	Silent	SNP	ENST00000354024.3	37	c.1359C>T	CCDS31598.1																																																																																				0.602	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1		NM_153819		15	47	0	0	0	0.003163	0	15	47		
KDM2A	22992	broad.mit.edu	37	11	67017821	67017821	+	Missense_Mutation	SNP	C	C	T	rs202025193		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:67017821C>T	ENST00000529006.2	+	17	2766	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	KDM2A_ENST00000530342.1_Missense_Mutation_p.R335W|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R232W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	774					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R774W(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACCATGGTACGGGAAAAGGA	0.617																																						uc001ojw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(2320-2322)CGG>TGG		F-box and leucine-rich repeat protein 11							48.0	56.0	53.0					11																	67017821		2030	4183	6213	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67017821C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2320C>T	11.37:g.67017821C>T	ENSP00000432786:p.Arg774Trp					KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Missense_Mutation_p.R468W|KDM2A_uc010rpn.1_Missense_Mutation_p.R335W|KDM2A_uc001ojz.1_Missense_Mutation_p.R232W|KDM2A_uc001oka.2_5'Flank	p.R774W	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			17	3184	+			774					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2320C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185089	0.57909	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T	0.44881	0.91;0.91;0.91	6.03	6.03	0.97812	.	0.777663	0.12889	N	0.430783	T	0.51483	0.1677	L	0.36672	1.1	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	P;P	0.59171	0.853;0.853	T	0.23868	-1.0176	9	.	.	.	-15.5549	15.1651	0.72818	0.1403:0.8597:0.0:0.0	.	232;774	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	W	774;335;335;232	ENSP00000432786:R774W;ENSP00000435776:R335W;ENSP00000309302:R232W	.	R	+	1	2	KDM2A	66774397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.568000	0.36418	2.861000	0.98227	0.655000	0.94253	CGG		0.617	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2		NM_012308		7	24	0	0	0	0.001984	0	7	24		
Unknown	0	broad.mit.edu	37	11	89819393	89819393	+	IGR	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:89819393A>T								TRIM49C (12835 upstream) : SNORD56 (32165 downstream)																							AAAGCCAAAAATACAGGAACG	0.418																																						uc010rub.1		NaN																	0					0						c.(274-276)AAA>AAT		upstream binding transcription factor, RNA							115.0	84.0	94.0					11																	89819393		686	1564	2250	SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819393A>T																													11.37:g.89819393A>T							p.K92N	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			1	276	+			92						Missense_Mutation	SNP		37	c.276A>T																																																																																				0	0.418										23	18	0	0	0	0.00333	0	23	18		
BCL9L	283149	broad.mit.edu	37	11	118771774	118771774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:118771774G>A	ENST00000334801.3	-	6	3642	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	893	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.P893L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGACGCAGGGGGCAGAGGCAT	0.602																																						uc001pug.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|pancreas(1)	2						c.(2677-2679)CCC>CTC		B-cell CLL/lymphoma 9-like							81.0	74.0	77.0					11																	118771774		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118771774G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2678C>T	11.37:g.118771774G>A	ENSP00000335320:p.Pro893Leu					BCL9L_uc009zal.2_Missense_Mutation_p.P888L	p.P893L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3643	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	893			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.2678C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558413	0.45590	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.37235	1.21	4.48	4.48	0.54585	.	0.170243	0.28279	N	0.015930	T	0.20780	0.0500	N	0.08118	0	0.36390	D	0.862456	B;P	0.43231	0.187;0.801	B;B	0.37780	0.037;0.258	T	0.22626	-1.0211	10	0.31617	T	0.26	-6.2968	16.9663	0.86286	0.0:0.0:1.0:0.0	.	888;893	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	893;856;186;893;893	ENSP00000335320:P893L	ENSP00000335320:P893L	P	-	2	0	BCL9L	118276984	1.000000	0.71417	0.922000	0.36590	0.681000	0.39784	4.228000	0.58619	2.299000	0.77371	0.655000	0.94253	CCC		0.602	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1		NM_182557		19	16	0	0	0	0.00278	0	19	16		
KDM5A	5927	broad.mit.edu	37	12	420231	420231	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:420231C>G	ENST00000399788.2	-	21	3399		c.e21-1		KDM5A_ENST00000382815.4_Splice_Site	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A						chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGCTGCCACTCTGAAAAACCA	0.418			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Unknown(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.e21-1		retinoblastoma binding protein 2 isoform 1							38.0	38.0	38.0					12																	420231		1888	4120	6008	SO:0001630	splice_region_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:420231C>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3037-1G>C	12.37:g.420231C>G						KDM5A_uc001qie.1_Splice_Site_p.S1013_splice|KDM5A_uc010sdn.1_Splice_Site_p.S972_splice	p.S1013_splice	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			21	3400	-								A8MV76|Q4LE72|Q86XZ1	Splice_Site	SNP	ENST00000399788.2	37	c.3037_splice	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518247	0.64634	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5A	290492	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.764000	0.74960	2.840000	0.97914	0.655000	0.94253	.		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056	Intron	3	36	0	0	0	0.004672	0	3	36		
CD163	9332	broad.mit.edu	37	12	7639982	7639982	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:7639982C>T	ENST00000359156.4	-	8	2225	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	CD163_ENST00000396620.3_Missense_Mutation_p.E708K|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.E675K|CD163_ENST00000541972.1_Missense_Mutation_p.E663K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	675	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E675K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCACTTGCTCTGAAGGACAT	0.468																																						uc001qsz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(2023-2025)GAG>AAG		CD163 antigen isoform a							78.0	69.0	72.0					12																	7639982		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639982C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2023G>A	12.37:g.7639982C>T	ENSP00000352071:p.Glu675Lys					CD163_uc001qta.3_Missense_Mutation_p.E675K|CD163_uc009zfw.2_Missense_Mutation_p.E708K	p.E675K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	2151	-			675			SRCR 6.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2023G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191931	0.21954	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.36	3.53	0.40419	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.837949	0.10846	N	0.627633	T	0.23171	0.0560	N	0.12527	0.23	0.09310	N	1	B;B;B	0.27971	0.037;0.001;0.196	B;B;B	0.31946	0.105;0.001;0.138	T	0.28004	-1.0057	10	0.30078	T	0.28	.	9.8989	0.41335	0.0:0.8322:0.0:0.1678	.	708;675;675	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	675;663;708;675	ENSP00000352071:E675K;ENSP00000444071:E663K;ENSP00000379863:E708K;ENSP00000403885:E675K	ENSP00000352071:E675K	E	-	1	0	CD163	7531249	0.000000	0.05858	0.022000	0.16811	0.263000	0.26337	-0.670000	0.05256	0.750000	0.32877	0.655000	0.94253	GAG		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		5	46	0	0	0	0.000602	0	5	46		
A2M	2	broad.mit.edu	37	12	9268390	9268390	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:9268390A>G	ENST00000318602.7	-	1	363	c.56T>C	c.(55-57)cTg>cCg	p.L19P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	19					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.L19P(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTCTGTGGGCAGGAGGACCAA	0.468																																						uc001qvk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|skin(1)	5						c.(55-57)CTG>CCG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						118.0	122.0	121.0					12																	9268390		1931	4128	6059	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9268390A>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.56T>C	12.37:g.9268390A>G	ENSP00000323929:p.Leu19Pro					A2M_uc009zgk.1_5'UTR	p.L19P	NM_000014	NP_000005	P01023	A2MG_HUMAN			1	169	-			19					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.56T>C	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919732	0.73098	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.55413	0.52;0.52	5.3	5.3	0.74995	TonB box, conserved site (1);	0.487974	0.18577	N	0.137141	T	0.64994	0.2649	M	0.62723	1.935	0.51482	D	0.999928	D	0.69078	0.997	P	0.60236	0.871	T	0.65372	-0.6184	10	0.49607	T	0.09	.	11.9116	0.52743	1.0:0.0:0.0:0.0	.	19	P01023	A2MG_HUMAN	P	19;34;19	ENSP00000323929:L19P;ENSP00000385710:L19P	ENSP00000323929:L19P	L	-	2	0	A2M	9159657	0.978000	0.34361	0.765000	0.31456	0.971000	0.66376	3.096000	0.50243	2.133000	0.65898	0.533000	0.62120	CTG		0.468	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		13	91	0	0	0	0.001368	0	13	91		
GSG1	83445	broad.mit.edu	37	12	13256440	13256440	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:13256440C>G	ENST00000432710.2	-	1	139	c.7G>C	c.(7-9)Gat>Cat	p.D3H	GSG1_ENST00000351606.6_Missense_Mutation_p.D3H|GSG1_ENST00000324458.8_Missense_Mutation_p.D3H	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D3H(2)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGAGAGGGATCGCTCATTCAC	0.428																																						uc001rbn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(7-9)GAT>CAT		germ cell associated 1 isoform 4							262.0	252.0	255.0					12																	13256440		1962	4166	6128	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13256440C>G	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.7G>C	12.37:g.13256440C>G	ENSP00000405032:p.Asp3His					GSG1_uc001rbo.2_Missense_Mutation_p.D3H|GSG1_uc001rbp.2_Missense_Mutation_p.D3H|GSG1_uc001rbq.1_Missense_Mutation_p.D3H	p.D3H	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	180	-		Prostate(47;0.183)	Error:Variant_position_missing_in_Q2KHT4_after_alignment					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.7G>C	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150430	0.21371	.	.	ENSG00000111305	ENST00000324458;ENST00000432710;ENST00000351606;ENST00000545401;ENST00000542415	T;T;T;T;T	0.39229	1.4;1.41;1.09;1.19;1.28	4.79	-0.42	0.12336	.	1.747170	0.03343	N	0.195113	T	0.23766	0.0575	N	0.08118	0	0.32079	N	0.593395	P;P;P	0.45283	0.855;0.468;0.855	B;B;B	0.40444	0.329;0.246;0.329	T	0.18304	-1.0341	10	0.66056	D	0.02	.	4.2521	0.10700	0.0:0.2862:0.1703:0.5434	.	3;3;3	Q2KHT4-7;Q2KHT4-6;G3XAB9	.;.;.	H	3	ENSP00000320838:D3H;ENSP00000405032:D3H;ENSP00000336857:D3H;ENSP00000445884:D3H;ENSP00000439676:D3H	ENSP00000320838:D3H	D	-	1	0	GSG1	13147707	0.535000	0.26370	0.092000	0.20876	0.055000	0.15305	0.582000	0.23834	-0.063000	0.13065	-0.302000	0.09304	GAT		0.428	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1		NM_031289		26	232	0	0	0	0.005443	0	26	232		
GUCY2C	2984	broad.mit.edu	37	12	14827597	14827597	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:14827597G>T	ENST00000261170.3	-	8	1182	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	349					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.P349H(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGCAAATTTGGGGGTGGTAAT	0.388																																						uc001rcd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(1045-1047)CCC>CAC		guanylate cyclase 2C precursor							107.0	115.0	112.0					12																	14827597		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14827597G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1046C>A	12.37:g.14827597G>T	ENSP00000261170:p.Pro349His					GUCY2C_uc009zhz.2_Missense_Mutation_p.P349H	p.P349H	NM_004963	NP_004954	P25092	GUC2C_HUMAN			8	1183	-			349			Extracellular (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1046C>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	2.067	-0.414078	0.04766	.	.	ENSG00000070019	ENST00000261170	D	0.83335	-1.71	5.68	0.562	0.17290	Extracellular ligand-binding receptor (1);	1.127510	0.06261	N	0.693980	T	0.66416	0.2787	N	0.16478	0.41	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.48636	-0.9018	10	0.15066	T	0.55	.	3.6412	0.08168	0.0802:0.141:0.3435:0.4353	.	349	P25092	GUC2C_HUMAN	H	349	ENSP00000261170:P349H	ENSP00000261170:P349H	P	-	2	0	GUCY2C	14718864	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.062000	0.14389	0.039000	0.15632	-0.868000	0.02995	CCC		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1				10	189	1	0	9.70103e-10	0.008291	1.056e-09	10	189		
EPS8	2059	broad.mit.edu	37	12	15803941	15803941	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:15803941C>T	ENST00000281172.5	-	14	1687		c.e14-1		EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.?(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCACTCTGCTCTGCAGGAGGG	0.448																																						uc009zif.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.e14-1		epidermal growth factor receptor pathway							89.0	88.0	88.0					12																	15803941		2203	4300	6503	SO:0001630	splice_region_variant	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15803941C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1251-1G>A	12.37:g.15803941C>T						EPS8_uc001rdb.2_Splice_Site_p.R417_splice|EPS8_uc009zig.2_Splice_Site_p.R157_splice|EPS8_uc010shv.1_Splice_Site_p.R157_splice	p.R417_splice	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	14	1345	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)						A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Splice_Site	SNP	ENST00000281172.5	37	c.1251_splice	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282982	0.59867	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2091	0.86926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS8	15695208	1.000000	0.71417	0.990000	0.47175	0.565000	0.35776	7.289000	0.78701	2.477000	0.83638	0.650000	0.86243	.		0.448	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			Intron	12	72	0	0	0	0.001368	0	12	72		
SLCO1B3	28234	broad.mit.edu	37	12	21028199	21028199	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:21028199G>C	ENST00000381545.3	+	9	977	c.758G>C	c.(757-759)cGt>cCt	p.R253P	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R253P|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R253P|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R253P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	253					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.R253P(1)|p.R253L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AAGGACTCTCGTTGGGTTGGA	0.378																																						uc001rek.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(757-759)CGT>CCT		solute carrier organic anion transporter family,							232.0	234.0	233.0					12																	21028199		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028199G>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.758G>C	12.37:g.21028199G>C	ENSP00000370956:p.Arg253Pro					SLCO1B3_uc001rel.2_Missense_Mutation_p.R253P|SLCO1B3_uc010sil.1_Missense_Mutation_p.R253P|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.R78P	p.R253P	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	884	+	Esophageal squamous(101;0.149)		253			Extracellular (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.758G>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.438291	0.43326	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	3.92	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108239	0.64402	D	0.000004	T	0.75845	0.3905	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83571	0.0112	10	0.87932	D	0	.	13.8538	0.63513	0.0:0.0:1.0:0.0	.	253;253;253	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	P	253;253;253;253;77;253	ENSP00000442000:R253P;ENSP00000261196:R253P;ENSP00000370956:R253P;ENSP00000451758:R253P;ENSP00000443225:R77P;ENSP00000441269:R253P	ENSP00000441269:R253P	R	+	2	0	SLCO1B3;RP11-545J16.1	20919466	1.000000	0.71417	0.942000	0.38095	0.018000	0.09664	5.630000	0.67805	2.034000	0.60081	0.461000	0.40582	CGT		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844		42	272	0	0	0	0.009718	0	42	272		
ITPR2	3709	broad.mit.edu	37	12	26839539	26839539	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:26839539C>G	ENST00000381340.3	-	11	1439	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	341	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.K341N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCGTTTTTTCTTTGAAGTTG	0.413																																						uc001rhg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1021-1023)AAG>AAC		inositol 1,4,5-triphosphate receptor, type 2							184.0	176.0	178.0					12																	26839539		1860	4108	5968	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26839539C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1023G>C	12.37:g.26839539C>G	ENSP00000370744:p.Lys341Asn						p.K341N	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			11	1440	-	Colorectal(261;0.0847)		341			Cytoplasmic (Potential).|MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1023G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182938	0.21870	.	.	ENSG00000123104	ENST00000381340	D	0.87491	-2.26	4.92	3.05	0.35203	MIR motif (2);MIR (2);	0.294287	0.37348	N	0.002124	T	0.80363	0.4609	L	0.40543	1.245	0.80722	D	1	B	0.25169	0.119	B	0.30495	0.116	T	0.71994	-0.4424	10	0.18276	T	0.48	.	9.9238	0.41481	0.0:0.7775:0.0:0.2225	.	341	Q14571	ITPR2_HUMAN	N	341	ENSP00000370744:K341N	ENSP00000370744:K341N	K	-	3	2	ITPR2	26730806	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.748000	0.38308	1.283000	0.44513	0.650000	0.86243	AAG		0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		13	260	0	0	0	0.001855	0	13	260		
BICD1	636	broad.mit.edu	37	12	32480490	32480490	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32480490G>A	ENST00000281474.5	+	5	1204	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	BICD1_ENST00000548411.1_Silent_p.R367R	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	367					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.R367R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATGAGCGGGTGCACCGGC	0.612																																						uc001rku.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1099-1101)CGG>CGA		bicaudal D homolog 1 isoform 1							59.0	55.0	56.0					12																	32480490		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480490G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1101G>A	12.37:g.32480490G>A						BICD1_uc001rkv.2_Silent_p.R367R|BICD1_uc010skd.1_RNA	p.R367R	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1182	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		367			Potential.		A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.1101G>A	CCDS8726.1																																																																																				0.612	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		NM_001714		8	61	0	0	0	0.00308	0	8	61		
CNTN1	1272	broad.mit.edu	37	12	41337797	41337797	+	Splice_Site	SNP	A	A	G	rs199754941		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:41337797A>G	ENST00000551295.2	+	14	1625	c.1508A>G	c.(1507-1509)gAt>gGt	p.D503G	CNTN1_ENST00000547702.1_Splice_Site_p.D503G|CNTN1_ENST00000347616.1_Splice_Site_p.D503G|CNTN1_ENST00000547849.1_Splice_Site_p.D503G|CNTN1_ENST00000360099.3_Splice_Site_p.D503G|CNTN1_ENST00000348761.2_Splice_Site_p.D492G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	503					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D503G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAATATATAGATCCTACGCGA	0.338																																						uc001rmm.1		NaN																	1	Substitution - Missense(1)	p.D503H(1)	urinary_tract(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1507-1509)GAT>GGT		contactin 1 isoform 1 precursor							75.0	67.0	70.0					12																	41337797		2203	4299	6502	SO:0001630	splice_region_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337797A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1508-1A>G	12.37:g.41337797A>G						CNTN1_uc009zjy.1_Missense_Mutation_p.D503G|CNTN1_uc001rmn.1_Missense_Mutation_p.D492G|CNTN1_uc001rmo.2_Missense_Mutation_p.D503G	p.D503G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			14	1621	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	503					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1508A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	7.295	0.611762	0.14066	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	4.72	4.72	0.59763	Immunoglobulin-like fold (1);	0.291159	0.36932	N	0.002332	T	0.24699	0.0599	L	0.33189	0.99	0.33330	D	0.568398	B;B;B	0.25351	0.0;0.124;0.076	B;B;B	0.32624	0.001;0.149;0.071	T	0.30446	-0.9978	9	.	.	.	.	10.5471	0.45066	0.7078:0.2922:0.0:0.0	.	503;492;503	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	G	503;503;503;503;503;492	ENSP00000448004:D503G;ENSP00000447006:D503G;ENSP00000448653:D503G;ENSP00000325660:D503G;ENSP00000353213:D503G;ENSP00000261160:D492G	.	D	+	2	0	CNTN1	39624064	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	5.267000	0.65530	2.121000	0.65114	0.418000	0.28097	GAT		0.338	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843	Missense_Mutation	11	60	0	0	0	0.001855	0	11	60		
PLEKHA8P1	51054	broad.mit.edu	37	12	45567619	45567619	+	RNA	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:45567619G>A	ENST00000256692.5	-	0	1066					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.S177L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGCAACTTGAGTCTGATCC	0.388																																						uc001rom.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(529-531)TCA>TTA		pleckstrin homology domain containing, family A							184.0	175.0	178.0					12																	45567619		2203	4300	6503			51054							g.chr12:45567619G>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567619G>A						PLEKHA9_uc009zke.2_Missense_Mutation_p.S177L	p.S177L	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1067	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.530C>T																																																																																					0.388	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144		7	182	0	0	0	0.004482	0	7	182		
RND1	27289	broad.mit.edu	37	12	49258602	49258602	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:49258602C>T	ENST00000309739.5	-	2	302	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	58					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.E58K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						ACCCTCTGTTCCTCTGTCTCC	0.507																																						uc001rsn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(172-174)GAA>AAA		GTP-binding protein RHO6 precursor							210.0	186.0	195.0					12																	49258602		2203	4300	6503	SO:0001583	missense	27289				actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding	g.chr12:49258602C>T	Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.172G>A	12.37:g.49258602C>T	ENSP00000308461:p.Glu58Lys						p.E58K	NM_014470	NP_055285	Q92730	RND1_HUMAN			2	275	-			58					A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	c.172G>A	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684261	0.47991	.	.	ENSG00000172602	ENST00000309739	T	0.69561	-0.41	3.99	3.99	0.46301	Small GTP-binding protein domain (1);	0.227351	0.43416	D	0.000563	T	0.42108	0.1188	N	0.02286	-0.61	0.54753	D	0.999984	B	0.23591	0.088	B	0.21151	0.033	T	0.49661	-0.8916	10	0.87932	D	0	-13.8704	14.0364	0.64646	0.0:1.0:0.0:0.0	.	58	Q92730	RND1_HUMAN	K	58	ENSP00000308461:E58K	ENSP00000308461:E58K	E	-	1	0	RND1	47544869	0.255000	0.24002	1.000000	0.80357	0.994000	0.84299	2.336000	0.43938	2.237000	0.73441	0.449000	0.29647	GAA		0.507	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1		NM_014470		25	176	0	0	0	0.00632	0	25	176		
SLC4A8	9498	broad.mit.edu	37	12	51845973	51845973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:51845973G>T	ENST00000453097.2	+	4	560	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E142*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E62*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.E115*(2)|p.E62*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGCCTCATGAGCTGTTTAC	0.478																																						uc001rys.1		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(343-345)GAG>TAG		solute carrier family 4, sodium bicarbonate							260.0	244.0	249.0					12																	51845973		2203	4300	6503	SO:0001587	stop_gained	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51845973G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.343G>T	12.37:g.51845973G>T	ENSP00000405812:p.Glu115*					SLC4A8_uc010sni.1_Nonsense_Mutation_p.E62*|SLC4A8_uc001rym.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryn.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.E62*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.E62*|SLC4A8_uc010snj.1_Nonsense_Mutation_p.E142*|SLC4A8_uc001ryq.3_Nonsense_Mutation_p.E115*|SLC4A8_uc001ryr.2_Nonsense_Mutation_p.E115*|SLC4A8_uc010snk.1_Nonsense_Mutation_p.E62*	p.E115*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	4	521	+			115			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000453097.2	37	c.343G>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	39	7.835927	0.98516	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.62	5.62	0.85841	.	0.143561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.5318	0.87817	0.0:0.0:1.0:0.0	.	.	.	.	X	62;142;115;62;115;62;62;62	.	ENSP00000315789:E115X	E	+	1	0	SLC4A8	50132240	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAG		0.478	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858		6	222	1	0	3.59834e-05	0.001168	3.74155e-05	6	222		
KRT6A	3853	broad.mit.edu	37	12	52882204	52882204	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:52882204C>T	ENST00000330722.6	-	7	1400	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	444	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L444L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCCTTCAGCAGCCGGGCCA	0.612																																						uc001sam.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(1330-1332)CTG>CTA		keratin 6A							104.0	95.0	98.0					12																	52882204		2203	4298	6501	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882204C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1332G>A	12.37:g.52882204C>T							p.L444L	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1541	-			444			Rod.|Coil 2.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1332G>A	CCDS41786.1																																																																																				0.612	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2		NM_005554		30	40	0	0	0	0.002096	0	30	40		
TCTN1	79600	broad.mit.edu	37	12	111064234	111064234	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:111064234C>G	ENST00000551590.1	+	3	565	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.Q137E|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000550703.2_Missense_Mutation_p.Q137E|TCTN1_ENST00000397659.4_Missense_Mutation_p.Q137E|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000397655.3_Missense_Mutation_p.Q137E			Q2MV58	TECT1_HUMAN	tectonic family member 1	137					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.Q137E(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AAACCCACCTCAAAGAGTATT	0.313																																						uc009zvs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(409-411)CAA>GAA		tectonic family member 1 isoform 2							74.0	71.0	72.0					12																	111064234		1804	4078	5882	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111064234C>G	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.409C>G	12.37:g.111064234C>G	ENSP00000448735:p.Gln137Glu					TCTN1_uc010syb.1_Missense_Mutation_p.Q137E|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.Q77E|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.Q137E|TCTN1_uc001trn.3_Missense_Mutation_p.Q137E|TCTN1_uc001tri.2_Missense_Mutation_p.Q81E|TCTN1_uc001trj.1_Missense_Mutation_p.Q81E|TCTN1_uc001trk.3_RNA	p.Q137E	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			3	517	+			137					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.409C>G	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856227	0.17106	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659;ENST00000397652	T;T;T	0.75821	-0.96;-0.97;-0.96	5.17	3.25	0.37280	Domain of unknown function DUF1619 (1);	0.539313	0.17473	U	0.173025	T	0.64962	0.2646	L	0.43701	1.375	0.80722	D	1	B;B;B;B;B;B;B	0.20261	0.018;0.002;0.005;0.005;0.007;0.004;0.043	B;B;B;B;B;B;B	0.23150	0.038;0.01;0.013;0.009;0.01;0.015;0.044	T	0.58819	-0.7569	10	0.28530	T	0.3	-8.0686	10.4154	0.44318	0.1375:0.5955:0.267:0.0	.	137;137;137;137;77;81;81	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4;Q05BR9	.;TECT1_HUMAN;.;.;.;.;.	E	77;137;137;137;137;81	ENSP00000448735:Q137E;ENSP00000380775:Q137E;ENSP00000380779:Q137E	ENSP00000380771:Q77E	Q	+	1	0	TCTN1	109548617	0.701000	0.27806	0.946000	0.38457	0.785000	0.44390	-0.290000	0.08354	1.159000	0.42565	0.557000	0.71058	CAA		0.313	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2		NM_024549		8	41	0	0	0	0.00308	0	8	41		
HECTD4	283450	broad.mit.edu	37	12	112666449	112666449	+	Splice_Site	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:112666449A>G	ENST00000430131.2	-	41	6564		c.e41+1		HECTD4_ENST00000550722.1_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)									AAATCACCTTACCTCTGATCT	0.403																																						uc009zwc.2		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.e35+1		chromosome 12 open reading frame 51							108.0	103.0	105.0					12																	112666449		1899	4127	6026	SO:0001630	splice_region_variant	283450							g.chr12:112666449A>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5418+1T>C	12.37:g.112666449A>G						C12orf51_uc001ttr.1_5'Flank	p.E1806_splice	NM_001109662	NP_001103132					35	5436	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37	c.5418_splice		.	.	.	.	.	.	.	.	.	.	A	21.8	4.206455	0.79127	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111150832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.747000	0.91610	2.371000	0.80710	0.533000	0.62120	.		0.403	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	Intron	9	83	0	0	0	0.004482	0	9	83		
TBX3	6926	broad.mit.edu	37	12	115115443	115115443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:115115443C>G	ENST00000257566.3	-	5	1272	c.883G>C	c.(883-885)Gac>Cac	p.D295H	TBX3_ENST00000349155.2_Missense_Mutation_p.D275H	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	295					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D295H(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGGTTGTTGTCTATTTTTAAC	0.358																																						uc001tvt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(883-885)GAC>CAC		T-box 3 protein isoform 2							91.0	88.0	89.0					12																	115115443		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115115443C>G	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.883G>C	12.37:g.115115443C>G	ENSP00000257566:p.Asp295His					TBX3_uc001tvu.1_Missense_Mutation_p.D275H	p.D295H	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	1847	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		295			T-box; second part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.883G>C	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380486	0.82792	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89050	-2.46;-2.46	5.25	5.25	0.73442	p53-like transcription factor, DNA-binding (1);	0.044856	0.85682	D	0.000000	D	0.96034	0.8708	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.96907	0.9664	10	0.87932	D	0	.	17.769	0.88486	0.0:1.0:0.0:0.0	.	275;295	O15119-2;O15119	.;TBX3_HUMAN	H	275;295;295	ENSP00000257567:D275H;ENSP00000257566:D295H	ENSP00000257566:D295H	D	-	1	0	TBX3	113599826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.653000	0.67967	2.619000	0.88677	0.655000	0.94253	GAC		0.358	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2		NM_016569, NM_005996		16	125	0	0	0	0.006122	0	16	125		
EP400	57634	broad.mit.edu	37	12	132475243	132475243	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:132475243G>T	ENST00000333577.4	+	10	2830	c.2721G>T	c.(2719-2721)caG>caT	p.Q907H	EP400_ENST00000389561.2_Missense_Mutation_p.Q871H|EP400_ENST00000332482.4_Missense_Mutation_p.Q834H|EP400_ENST00000389562.2_Missense_Mutation_p.Q870H|EP400_ENST00000330386.6_Missense_Mutation_p.Q871H			Q96L91	EP400_HUMAN	E1A binding protein p400	907					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q870H(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TAAATTTACAGAAAGTTTCCA	0.393																																						uc001ujn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(2611-2613)CAG>CAT		E1A binding protein p400							67.0	74.0	72.0					12																	132475243		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132475243G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2721G>T	12.37:g.132475243G>T	ENSP00000333602:p.Gln907His					EP400_uc001ujl.2_Missense_Mutation_p.Q870H|EP400_uc001ujm.2_Missense_Mutation_p.Q871H|EP400_uc001ujj.1_Missense_Mutation_p.Q834H|EP400_uc001ujk.2_Missense_Mutation_p.Q907H	p.Q871H	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	8	2648	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	907					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2613G>T		.	.	.	.	.	.	.	.	.	.	G	10.70	1.424738	0.25639	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90732	-2.72;-2.7;-2.7;-2.71;-2.69	5.08	3.19	0.36642	.	0.249316	0.41097	N	0.000944	D	0.88789	0.6532	L	0.28274	0.84	0.33490	D	0.588629	B;B;B;D;B	0.65815	0.023;0.023;0.023;0.995;0.023	B;B;B;D;B	0.64776	0.01;0.01;0.01;0.929;0.01	D	0.87370	0.2350	9	.	.	.	.	5.599	0.17343	0.0753:0.1415:0.6363:0.1469	.	871;871;870;907;834	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	H	907;871;870;834;871;907;871;871	ENSP00000333602:Q907H;ENSP00000374212:Q871H;ENSP00000374213:Q870H;ENSP00000331737:Q834H;ENSP00000330620:Q871H	.	Q	+	3	2	EP400	131041196	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	2.196000	0.42686	0.606000	0.29965	0.555000	0.69702	CAG		0.393	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		13	51	1	0	1.49906e-05	0.00245	1.57044e-05	13	51		
SACS	26278	broad.mit.edu	37	13	23915126	23915126	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:23915126A>G	ENST00000382292.3	-	9	3162	c.2889T>C	c.(2887-2889)tcT>tcC	p.S963S	SACS_ENST00000402364.1_Silent_p.S213S|SACS_ENST00000382298.3_Silent_p.S963S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	963					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S963S(1)|p.S816S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTACTGAAATAGAAAGTCGCA	0.363																																						uc001uon.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2887-2889)TCT>TCC		sacsin							68.0	68.0	68.0					13																	23915126		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915126A>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2889T>C	13.37:g.23915126A>G						SACS_uc001uoo.2_Silent_p.S816S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S963S	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3478	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	963					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.2889T>C	CCDS9300.2																																																																																				0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		25	91	0	0	0	0.00333	0	25	91		
KBTBD6	89890	broad.mit.edu	37	13	41705450	41705450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:41705450G>A	ENST00000379485.1	-	1	1432	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	KBTBD6_ENST00000499385.2_Nonsense_Mutation_p.Q334*	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	400								p.Q400*(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTCCTGGGCTGAGCAGCTAGA	0.502																																						uc001uxu.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1198-1200)CAG>TAG		kelch repeat and BTB (POZ) domain-containing 6							115.0	106.0	109.0					13																	41705450		2203	4300	6503	SO:0001587	stop_gained	89890						protein binding	g.chr13:41705450G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1198C>T	13.37:g.41705450G>A	ENSP00000368799:p.Gln400*					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.Q334*|uc001uxv.1_5'Flank	p.Q400*	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1487	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	400			Kelch 1.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Nonsense_Mutation	SNP	ENST00000379485.1	37	c.1198C>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	36	5.752903	0.96890	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	.	.	.	3.8	3.8	0.43715	.	0.065806	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.5205	0.61566	0.0:0.0:1.0:0.0	.	.	.	.	X	400;334	.	ENSP00000368799:Q400X	Q	-	1	0	KBTBD6	40603450	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	7.708000	0.84633	2.132000	0.65825	0.462000	0.41574	CAG		0.502	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		34	156	0	0	0	0.004289	0	34	156		
NEK5	341676	broad.mit.edu	37	13	52667254	52667254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:52667254G>C	ENST00000355568.4	-	13	1283	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	382					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q382*(1)|p.Q439*(1)|p.Q439E(1)|p.Q382E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GTATTTTCTTGAGGAATAGGG	0.418																																						uc001vge.2		NaN																	4	Substitution - Missense(2)|Substitution - Nonsense(2)		urinary_tract(2)|cervix(2)	upper_aerodigestive_tract(1)	1						c.(1144-1146)CAA>GAA		NIMA-related kinase 5							176.0	147.0	157.0					13																	52667254		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52667254G>C	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1144C>G	13.37:g.52667254G>C	ENSP00000347767:p.Gln382Glu					NEK5_uc001vgf.2_Missense_Mutation_p.Q382E	p.Q382E	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	13	1284	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	382					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1144C>G	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	7.885	0.731057	0.15507	.	.	ENSG00000197168	ENST00000355568	T	0.69926	-0.44	4.86	0.649	0.17806	.	0.983011	0.08246	N	0.975424	T	0.52191	0.1719	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.36432	-0.9748	10	0.06236	T	0.91	.	5.455	0.16586	0.1443:0.1224:0.6216:0.1116	.	382	Q6P3R8	NEK5_HUMAN	E	382	ENSP00000347767:Q382E	ENSP00000347767:Q382E	Q	-	1	0	NEK5	51565255	0.992000	0.36948	0.050000	0.19076	0.006000	0.05464	2.191000	0.42640	0.119000	0.18210	-0.350000	0.07774	CAA		0.418	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3		NM_199289		44	126	0	0	0	0.009718	0	44	126		
KLF5	688	broad.mit.edu	37	13	73636553	73636553	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:73636553G>A	ENST00000377687.4	+	2	1352	c.816G>A	c.(814-816)caG>caA	p.Q272Q	KLF5_ENST00000539231.1_Silent_p.Q181Q|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	272					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q272Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTGTTCCGCAGACTGCAGTGA	0.502																																						uc001vje.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|pancreas(1)	3						c.(814-816)CAG>CAA		Kruppel-like factor 5							106.0	96.0	99.0					13																	73636553		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636553G>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.816G>A	13.37:g.73636553G>A						KLF5_uc001vjd.2_Silent_p.Q181Q	p.Q272Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1140	+		Prostate(6;0.00187)|Breast(118;0.0735)	272					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.816G>A	CCDS9448.1																																																																																				0.502	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				21	93	0	0	0	0.008871	0	21	93		
MYCBP2	23077	broad.mit.edu	37	13	77825292	77825292	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:77825292G>C	ENST00000544440.2	-	15	2278	c.2261C>G	c.(2260-2262)cCc>cGc	p.P754R	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P754R|MYCBP2_ENST00000407578.2_Missense_Mutation_p.P792R|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.P754R(2)|p.P792R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCCTCCGGGGACTCTGTC	0.443																																						uc001vkf.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(2260-2262)CCC>CGC		MYC binding protein 2							72.0	65.0	67.0					13																	77825292		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77825292G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2261C>G	13.37:g.77825292G>C	ENSP00000444596:p.Pro754Arg					MYCBP2_uc010aev.2_Missense_Mutation_p.P158R	p.P754R	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	16	2352	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	754			Cys-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.2261C>G		.	.	.	.	.	.	.	.	.	.	G	24.1	4.493501	0.84962	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.47;1.46;1.47	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.60306	-0.7289	10	0.87932	D	0	.	19.4593	0.94910	0.0:0.0:1.0:0.0	.	754	O75592	MYCB2_HUMAN	R	754;792;754	ENSP00000349892:P754R;ENSP00000384288:P792R;ENSP00000444596:P754R	ENSP00000349892:P754R	P	-	2	0	MYCBP2	76723293	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	9.869000	0.99810	2.585000	0.87301	0.563000	0.77884	CCC		0.443	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		8	65	0	0	0	0.00308	0	8	65		
SLITRK6	84189	broad.mit.edu	37	13	86369424	86369424	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:86369424A>C	ENST00000400286.2	-	2	1818	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	407					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.F407C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAGGTTCATAAACGATCCTTC	0.338																																						uc001vll.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1219-1221)TTT>TGT		slit and trk like 6 precursor							78.0	72.0	74.0					13																	86369424		1846	4093	5939	SO:0001583	missense	84189					integral to membrane		g.chr13:86369424A>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1220T>G	13.37:g.86369424A>C	ENSP00000383143:p.Phe407Cys					SLITRK6_uc010afe.1_Intron	p.F407C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1679	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		407			Extracellular (Potential).|LRR 7.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1220T>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441135	0.43326	.	.	ENSG00000184564	ENST00000400286	T	0.72051	-0.62	5.61	5.61	0.85477	.	0.000000	0.64402	U	0.000001	D	0.89931	0.6858	H	0.98256	4.185	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93419	0.6775	10	0.87932	D	0	-15.0978	14.6261	0.68621	1.0:0.0:0.0:0.0	.	407	Q9H5Y7	SLIK6_HUMAN	C	407	ENSP00000383143:F407C	ENSP00000383143:F407C	F	-	2	0	SLITRK6	85267425	1.000000	0.71417	0.995000	0.50966	0.536000	0.34869	9.339000	0.96797	2.139000	0.66308	0.477000	0.44152	TTT		0.338	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229		30	101	0	0	0	0.008361	0	30	101		
GPR180	160897	broad.mit.edu	37	13	95273419	95273419	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:95273419A>G	ENST00000376958.4	+	6	849	c.824A>G	c.(823-825)cAa>cGa	p.Q275R		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	275					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q275R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAGAAGTCTCAAAGCAGACCT	0.423																																						uc001vly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(823-825)CAA>CGA		G protein-coupled receptor 180 precursor							160.0	145.0	150.0					13																	95273419		2203	4300	6503	SO:0001583	missense	160897					integral to membrane		g.chr13:95273419A>G	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.824A>G	13.37:g.95273419A>G	ENSP00000366157:p.Gln275Arg					GPR180_uc001vlz.2_Missense_Mutation_p.Q174R|GPR180_uc010afi.2_Missense_Mutation_p.Q36R	p.Q275R	NM_180989	NP_851320	Q86V85	GP180_HUMAN			6	902	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		275					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.824A>G	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312262	0.40895	.	.	ENSG00000152749	ENST00000376958	T	0.43294	0.95	5.63	5.63	0.86233	Rhodopsin-like GPCR transmembrane domain (1);	0.272313	0.38605	N	0.001631	T	0.36331	0.0963	L	0.51422	1.61	0.48452	D	0.999654	P	0.38677	0.642	B	0.34991	0.193	T	0.14671	-1.0464	10	0.15952	T	0.53	-13.1457	15.8269	0.78718	1.0:0.0:0.0:0.0	.	275	Q86V85	GP180_HUMAN	R	275	ENSP00000366157:Q275R	ENSP00000366157:Q275R	Q	+	2	0	GPR180	94071420	1.000000	0.71417	0.930000	0.37139	0.997000	0.91878	5.514000	0.67043	2.127000	0.65507	0.528000	0.53228	CAA		0.423	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3		NM_180989		5	188	0	0	0	0.000602	0	5	188		
ZIC2	7546	broad.mit.edu	37	13	100635308	100635308	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr13:100635308G>C	ENST00000376335.3	+	1	1283	c.990G>C	c.(988-990)gaG>gaC	p.E330D		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	330					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E330D(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACACAGGCGAGAAACCCTTCC	0.607																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(988-990)GAG>GAC		zinc finger protein of the cerebellum 2							96.0	105.0	102.0					13																	100635308		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635308G>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.990G>C	13.37:g.100635308G>C	ENSP00000365514:p.Glu330Asp						p.E330D	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	990	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		330					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.990G>C	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363456	0.82353	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91237	-2.81	4.69	4.69	0.59074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.116551	0.56097	D	0.000033	D	0.90431	0.7004	L	0.31065	0.9	0.58432	D	0.999996	P	0.40534	0.72	P	0.50590	0.645	D	0.91727	0.5393	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	330	O95409	ZIC2_HUMAN	D	330;79	ENSP00000365514:E330D	ENSP00000365514:E330D	E	+	3	2	ZIC2	99433309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.949000	0.56668	2.610000	0.88304	0.561000	0.74099	GAG		0.607	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2		NM_007129		5	114	0	0	0	0.000602	0	5	114		
OR6S1	341799	broad.mit.edu	37	14	21108987	21108987	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:21108987C>G	ENST00000320704.3	-	1	863	c.864G>C	c.(862-864)ttG>ttC	p.L288F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L288F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGAATGGATTCAACAGTGGTG	0.443																																						uc001vxv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(862-864)TTG>TTC		olfactory receptor, family 6, subfamily S,							207.0	183.0	191.0					14																	21108987		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108987C>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.864G>C	14.37:g.21108987C>G	ENSP00000313110:p.Leu288Phe						p.L288F	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	864	-	all_cancers(95;0.00304)		288			Helical; Name=7; (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.864G>C	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097420	0.56075	.	.	ENSG00000181803	ENST00000320704	T	0.48522	0.81	5.7	0.47	0.16747	GPCR, rhodopsin-like superfamily (1);	0.186225	0.26099	N	0.026350	T	0.49712	0.1573	L	0.47716	1.5	0.32236	N	0.573299	D	0.67145	0.996	D	0.66979	0.948	T	0.55823	-0.8080	10	0.66056	D	0.02	-8.253	1.443	0.02358	0.1363:0.4162:0.1329:0.3146	.	288	Q8NH40	OR6S1_HUMAN	F	288	ENSP00000313110:L288F	ENSP00000313110:L288F	L	-	3	2	OR6S1	20178827	0.057000	0.20700	0.997000	0.53966	0.992000	0.81027	-0.829000	0.04415	0.064000	0.16427	0.655000	0.94253	TTG		0.443	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1				6	238	0	0	0	0.001168	0	6	238		
GZMB	3002	broad.mit.edu	37	14	25101100	25101100	+	Silent	SNP	G	G	A	rs149659869		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:25101100G>A	ENST00000216341.4	-	4	670	c.564C>T	c.(562-564)tgC>tgT	p.C188C	GZMB_ENST00000415355.3_Silent_p.C176C|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382542.1_Silent_p.C222C|GZMB_ENST00000382540.1_Silent_p.C143C			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	188	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C188C(1)|p.C222C(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGTCCCCCACGCACAACTCAA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21988	0.0		0.001	False		,,,				2504	0.0					uc001wps.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(562-564)TGC>TGT		granzyme B precursor							141.0	132.0	135.0					14																	25101100		2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101100G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.564C>T	14.37:g.25101100G>A						GZMB_uc010ama.2_Silent_p.C176C|GZMB_uc010amb.2_RNA	p.C188C	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	630	-			188			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.564C>T	CCDS9633.1																																																																																				0.458	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3		NM_004131		6	244	0	0	0	0.001168	0	6	244		
INSM2	84684	broad.mit.edu	37	14	36003540	36003540	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:36003540C>G	ENST00000307169.3	+	1	293	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGTCTTCCCTCTGCTGGGGCC	0.687																																						uc001wth.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(82-84)CTG>GTG		insulinoma-associated protein IA-6							31.0	37.0	35.0					14																	36003540		2201	4298	6499	SO:0001583	missense	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36003540C>G	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.82C>G	14.37:g.36003540C>G	ENSP00000306523:p.Leu28Val						p.L28V	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	293	+	Breast(36;0.122)|Hepatocellular(127;0.158)		28					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.82C>G	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.523098	0.27211	.	.	ENSG00000168348	ENST00000307169	T	0.60171	0.21	4.49	3.6	0.41247	.	0.362127	0.15964	U	0.236122	T	0.37128	0.0992	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.21360	0.034	T	0.19321	-1.0309	10	0.34782	T	0.22	-2.3269	7.4747	0.27369	0.0:0.74:0.1681:0.0919	.	28	Q96T92	INSM2_HUMAN	V	28	ENSP00000306523:L28V	ENSP00000306523:L28V	L	+	1	2	INSM2	35073291	0.000000	0.05858	0.009000	0.14445	0.709000	0.40893	-0.115000	0.10741	1.109000	0.41680	0.542000	0.68232	CTG		0.687	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1				14	32	0	0	0	0.003163	0	14	32		
GNG2	54331	broad.mit.edu	37	14	52433361	52433361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:52433361G>C	ENST00000335281.4	+	3	578	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q	GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556766.1_Missense_Mutation_p.E58Q|GNG2_ENST00000553432.1_Missense_Mutation_p.E89Q|GNG2_ENST00000556752.1_Missense_Mutation_p.E58Q|GNG2_ENST00000554736.1_Missense_Mutation_p.E58Q|GNG2_ENST00000557376.1_Missense_Mutation_p.E97Q|GNG2_ENST00000555472.1_Missense_Mutation_p.E58Q|RP11-463J10.3_ENST00000553603.1_RNA	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	58					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)	p.E58Q(1)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCCGGCTTCAGAAAACCCGTT	0.522																																						uc001wzi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(172-174)GAA>CAA		guanine nucleotide binding protein (G protein),	Halothane(DB01159)						91.0	98.0	95.0					14																	52433361		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433361G>C	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.172G>C	14.37:g.52433361G>C	ENSP00000334448:p.Glu58Gln					GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.E58Q	p.E58Q	NM_053064	NP_444292	P59768	GBG2_HUMAN			4	701	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		58					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.172G>C	CCDS32082.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682800	0.88542	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.03	5.03	0.67393	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51911	-0.8645	9	0.36615	T	0.2	-8.46	19.2197	0.93791	0.0:0.0:1.0:0.0	.	58	P59768	GBG2_HUMAN	Q	89;97;58;58;58;58;58	ENSP00000451279:E89Q;ENSP00000450758:E97Q;ENSP00000334448:E58Q;ENSP00000451102:E58Q;ENSP00000451231:E58Q;ENSP00000452014:E58Q;ENSP00000451576:E58Q	ENSP00000334448:E58Q	E	+	1	0	GNG2	51503111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.700000	0.92200	0.591000	0.81541	GAA		0.522	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1				75	112	0	0	0	0.00361	0	75	112		
GPR135	64582	broad.mit.edu	37	14	59930507	59930507	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:59930507C>T	ENST00000395116.1	-	1	1553	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	480						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A480T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TTGGTCACTGCCGTCACCGGC	0.547																																						uc010apj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1438-1440)GCA>ACA		G protein-coupled receptor 135							46.0	52.0	50.0					14																	59930507		2203	4300	6503	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930507C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1438G>A	14.37:g.59930507C>T	ENSP00000378548:p.Ala480Thr					GPR135_uc001xed.2_RNA	p.A480T	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1553	-			480			Cytoplasmic (Potential).		Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.1438G>A	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	c	7.277	0.608405	0.14002	.	.	ENSG00000181619	ENST00000395116	T	0.62105	0.05	4.68	2.84	0.33178	.	0.741474	0.11894	U	0.519294	T	0.43233	0.1238	N	0.24115	0.695	0.09310	N	0.999997	B	0.13594	0.008	B	0.08055	0.003	T	0.24297	-1.0164	10	0.15066	T	0.55	-0.0835	7.9398	0.29952	0.0:0.7468:0.1627:0.0905	.	480	Q8IZ08	GP135_HUMAN	T	480	ENSP00000378548:A480T	ENSP00000378548:A480T	A	-	1	0	GPR135	59000260	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.835000	0.27531	0.584000	0.29591	-0.181000	0.13052	GCA		0.547	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1		NM_022571		7	20	0	0	0	0.00308	0	7	20		
VASH1	22846	broad.mit.edu	37	14	77242312	77242313	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:77242312_77242313GC>AT	ENST00000167106.4	+	5	1241_1242	c.608_609GC>AT	c.(607-609)cGC>cAT	p.R203H	VASH1_ENST00000554743.1_5'Flank|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.7_ENST00000553758.1_lincRNA|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	203					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.R203>?(1)|p.R203H(1)|p.R203R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AACTACTTCCGCCACATCGTGC	0.629																																						uc001xst.2		NaN																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)		urinary_tract(3)		0						c.(607-609)CGC>CAT		vasohibin 1																																				SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77242312_77242313GC>AT	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		Exception_encountered	14.37:g.77242312_77242313delinsAT	ENSP00000167106:p.Arg203His						p.R203H	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1538_1539	+			203					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	DNP	ENST00000167106.4	37	c.608_609GC>AT	CCDS9851.1																																																																																				0.629	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1		NM_014909		3	7	0	0	0	0.004672	0	3	7		
BRF1	2972	broad.mit.edu	37	14	105707692	105707692	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr14:105707692C>T	ENST00000546474.1	-	6	15563	c.604G>A	c.(604-606)Gag>Aag	p.E202K	BRF1_ENST00000327359.3_Missense_Mutation_p.E87K|BRF1_ENST00000440513.3_Missense_Mutation_p.E87K|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.E175K|BRF1_ENST00000551787.1_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	202					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.E202K(1)|p.E87K(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ATGGACACCTCGTGGTTCTTC	0.637																																						uc001yqp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(604-606)GAG>AAG		transcription initiation factor IIIB isoform 1							100.0	81.0	87.0					14																	105707692		2202	4300	6502	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105707692C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.604G>A	14.37:g.105707692C>T	ENSP00000448323:p.Glu202Lys					BRF1_uc010tyo.1_Missense_Mutation_p.E87K|BRF1_uc010typ.1_Missense_Mutation_p.E87K|BRF1_uc001yql.2_5'UTR|BRF1_uc001yqo.2_Intron|BRF1_uc010axg.1_Missense_Mutation_p.E175K|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_Intron	p.E202K	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	6	967	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	202			2.		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.604G>A	CCDS10001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.611682|4.611682	0.87258|0.87258	.|.	.|.	ENSG00000185024|ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513|ENST00000546417	.|.	.|.	.|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);|.	0.052937|.	0.64402|.	D|.	0.000001|.	T|T	0.58963|0.58963	0.2159|0.2159	L|L	0.39566|0.39566	1.225|1.225	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.862;0.999;1.0|.	B;D;D|.	0.72982|.	0.358;0.934;0.979|.	T|T	0.56092|0.56092	-0.8036|-0.8036	9|5	0.31617|.	T|.	0.26|.	.|.	15.0683|15.0683	0.72014|0.72014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;175;202|.	F5H5Z7;Q92994-5;Q92994|.	.;.;TF3B_HUMAN|.	K|Q	175;202;87;87|55	.|.	ENSP00000329029:E87K|.	E|R	-|-	1|2	0|0	BRF1|BRF1	104778737|104778737	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.925000|0.925000	0.55904|0.55904	4.415000|4.415000	0.59809|0.59809	2.220000|2.220000	0.72140|0.72140	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.637	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519		16	41	0	0	0	0.004007	0	16	41		
CYFIP1	23191	broad.mit.edu	37	15	22980128	22980128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:22980128C>G	ENST00000313077.7	+	23	2751	c.2626C>G	c.(2626-2628)Caa>Gaa	p.Q876E	CYFIP1_ENST00000435939.2_Missense_Mutation_p.Q445E|CYFIP1_ENST00000560848.1_Missense_Mutation_p.Q876E	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.Q876E(1)|p.Q445E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCAGGAATTTCAAAGAGATAA	0.358																																						uc001yus.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2626-2628)CAA>GAA		cytoplasmic FMR1 interacting protein 1 isoform							133.0	118.0	123.0					15																	22980128		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22980128C>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2626C>G	15.37:g.22980128C>G	ENSP00000324549:p.Gln876Glu					CYFIP1_uc001yut.2_Missense_Mutation_p.Q876E|CYFIP1_uc010aya.1_Missense_Mutation_p.Q904E|CYFIP1_uc001yuu.2_Missense_Mutation_p.Q445E|CYFIP1_uc001yuv.2_Missense_Mutation_p.Q70E	p.Q876E	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	23	2730	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	876						Missense_Mutation	SNP	ENST00000313077.7	37	c.2626C>G	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962197	0.53400	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.21361	2.01;2.01	5.07	5.07	0.68467	.	0.230317	0.30649	N	0.009173	T	0.18341	0.0440	L	0.31752	0.955	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.18263	0.003;0.005;0.021	T	0.05178	-1.0901	10	0.21014	T	0.42	-5.3783	18.4175	0.90575	0.0:1.0:0.0:0.0	.	904;445;876	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	E	876;904;445	ENSP00000324549:Q876E;ENSP00000405956:Q445E	ENSP00000324549:Q876E	Q	+	1	0	CYFIP1	20531569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.548000	0.67255	2.499000	0.84300	0.585000	0.79938	CAA		0.358	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		14	151	0	0	0	0.00245	0	14	151		
BAHD1	22893	broad.mit.edu	37	15	40758317	40758317	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:40758317G>C	ENST00000416165.1	+	7	2402	c.2331G>C	c.(2329-2331)aaG>aaC	p.K777N	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.K774N|BAHD1_ENST00000561234.1_Missense_Mutation_p.K776N	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	777	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.K777N(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCATCCTTAAGAACCCCCAGT	0.627																																						uc001zlu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2329-2331)AAG>AAC		bromo adjacent homology domain containing 1							70.0	74.0	73.0					15																	40758317		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758317G>C	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2331G>C	15.37:g.40758317G>C	ENSP00000396976:p.Lys777Asn					BAHD1_uc001zlt.2_Missense_Mutation_p.K776N|BAHD1_uc010bbp.1_Missense_Mutation_p.K773N|BAHD1_uc001zlv.2_Missense_Mutation_p.K774N	p.K777N	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	7	2402	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	777			BAH.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.2331G>C	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788695	0.70337	.	.	ENSG00000140320	ENST00000416165	T	0.37058	1.22	5.6	3.73	0.42828	Bromo adjacent homology (BAH) domain (2);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64114	-0.6483	10	0.87932	D	0	-20.9948	12.0659	0.53588	0.1397:0.0:0.8603:0.0	.	774;777;776	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	N	777	ENSP00000396976:K777N	ENSP00000396976:K777N	K	+	3	2	BAHD1	38545609	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.189000	0.58358	0.736000	0.32559	0.563000	0.77884	AAG		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1		NM_014952		15	43	0	0	0	0.010504	0	15	43		
RPAP1	26015	broad.mit.edu	37	15	41817271	41817271	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:41817271C>T	ENST00000304330.4	-	15	2109	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.E665K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	665						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E665K(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCAGCTTCCTCTGGGGGCAAG	0.617																																						uc001zod.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(1)	1						c.(1993-1995)GAG>AAG		RNA polymerase II associated protein 1							49.0	46.0	47.0					15																	41817271		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41817271C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1993G>A	15.37:g.41817271C>T	ENSP00000306123:p.Glu665Lys					RPAP1_uc001zoc.2_5'Flank	p.E665K	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	15	2117	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	665					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1993G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861593	0.71949	.	.	ENSG00000103932	ENST00000304330	T	0.64260	-0.09	5.38	4.44	0.53790	.	0.187479	0.47455	D	0.000222	T	0.58921	0.2156	L	0.56769	1.78	0.49299	D	0.999778	P	0.40431	0.717	B	0.35813	0.211	T	0.68588	-0.5369	10	0.87932	D	0	-14.3946	17.1548	0.86788	0.0:0.8419:0.1581:0.0	.	665	Q9BWH6	RPAP1_HUMAN	K	665	ENSP00000306123:E665K	ENSP00000306123:E665K	E	-	1	0	RPAP1	39604563	0.990000	0.36364	0.945000	0.38365	0.976000	0.68499	2.845000	0.48254	2.536000	0.85505	0.455000	0.32223	GAG		0.617	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		34	16	0	0	0	0.004289	0	34	16		
PLA2G4B	100137049	broad.mit.edu	37	15	42138489	42138489	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:42138489G>T	ENST00000452633.1	+	18	2041	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.W794C|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.W794C|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.W563C			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	563	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.W794C(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTCTGACGTGGCGTCCACTGG	0.522																																						uc010bco.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(1687-1689)TGG>TGT		phospholipase A2, group IVB							110.0	111.0	110.0					15																	42138489		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42138489G>T	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1689G>T	15.37:g.42138489G>T	ENSP00000396045:p.Trp563Cys					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.W264C|JMJD7-PLA2G4B_uc001zor.1_3'UTR	p.W563C	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			17	1790	+			563			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1689G>T	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	8.694	0.908130	0.17833	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.96	3.96	0.45880	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.463730	0.04327	N	0.351737	T	0.10680	0.0261	N	0.22421	0.69	0.40850	D	0.983746	P;B;P	0.42649	0.477;0.098;0.786	B;B;B	0.42653	0.312;0.115;0.394	T	0.28933	-1.0028	10	0.42905	T	0.14	-23.1918	7.7962	0.29148	0.0:0.1747:0.6447:0.1806	.	563;794;794	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	C	794;794;563;563	ENSP00000371886:W794C;ENSP00000342785:W794C;ENSP00000416610:W563C;ENSP00000396045:W563C	ENSP00000342785:W794C	W	+	3	0	JMJD7-PLA2G4B;PLA2G4B	39925781	0.258000	0.24033	0.956000	0.39512	0.269000	0.26545	0.427000	0.21379	2.664000	0.90586	0.655000	0.94253	TGG		0.522	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1		NM_001114633		6	89	1	0	0.00198382	0.001984	0.00203743	6	89		
UBR1	197131	broad.mit.edu	37	15	43339472	43339472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:43339472G>A	ENST00000290650.4	-	14	1633	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R519*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	519					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R519*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCTGTCTTCGGATTTCTTCC	0.423																																						uc001zqq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(1)	1						c.(1555-1557)CGA>TGA		ubiquitin protein ligase E3 component n-recognin							243.0	219.0	227.0					15																	43339472		2203	4299	6502	SO:0001587	stop_gained	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43339472G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1555C>T	15.37:g.43339472G>A	ENSP00000290650:p.Arg519*					UBR1_uc010udk.1_Nonsense_Mutation_p.R519*	p.R519*	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	14	1621	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	519					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	c.1555C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761605	0.96906	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	4.61	3.49	0.39957	.	0.171941	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-4.193	11.5884	0.50931	0.0:0.0:0.1566:0.8434	.	.	.	.	X	519	.	ENSP00000290650:R519X	R	-	1	2	UBR1	41126764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.830000	0.55768	0.912000	0.36772	-0.474000	0.04947	CGA		0.423	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916		9	234	0	0	0	0.006214	0	9	234		
UNC13C	440279	broad.mit.edu	37	15	54435219	54435219	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:54435219C>T	ENST00000260323.11	+	2	2988	c.2988C>T	c.(2986-2988)agC>agT	p.S996S	UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000537900.1_Silent_p.S996S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	996					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S996S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAGATAGCAGTTCTGTGG	0.313																																						uc002ack.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(5)|pancreas(2)	7						c.(2986-2988)AGC>AGT		unc-13 homolog C							168.0	160.0	162.0					15																	54435219		1817	4081	5898	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54435219C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2988C>T	15.37:g.54435219C>T							p.S996S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	2	2988	+			996					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.2988C>T	CCDS45264.1																																																																																				0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		10	83	0	0	0	0.001368	0	10	83		
DIS3L	115752	broad.mit.edu	37	15	66621672	66621672	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:66621672A>G	ENST00000319212.4	+	14	2520	c.2470A>G	c.(2470-2472)Aag>Gag	p.K824E	DIS3L_ENST00000319194.5_Missense_Mutation_p.K741E|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000568874.1_3'UTR	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	824					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.K741E(1)|p.K824E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATGGAAATTAAGGGAAATCT	0.333																																						uc010ujm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(2470-2472)AAG>GAG		DIS3 mitotic control homolog (S.							68.0	70.0	69.0					15																	66621672		2201	4298	6499	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66621672A>G		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2470A>G	15.37:g.66621672A>G	ENSP00000321711:p.Lys824Glu					DIS3L_uc002app.2_Missense_Mutation_p.K741E|DIS3L_uc010bho.2_Missense_Mutation_p.K690E	p.K824E	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			14	2485	+			824					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.2470A>G	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	A	5.909	0.351844	0.11182	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.42513	0.97;0.97	5.69	3.33	0.38152	.	0.407983	0.30068	N	0.010494	T	0.28928	0.0718	L	0.51422	1.61	0.29663	N	0.84309	B	0.11235	0.004	B	0.06405	0.002	T	0.35574	-0.9783	10	0.05436	T	0.98	-0.6035	7.1961	0.25853	0.7744:0.1456:0.0799:0.0	.	824	Q8TF46	DI3L1_HUMAN	E	741;824	ENSP00000321583:K741E;ENSP00000321711:K824E	ENSP00000321583:K741E	K	+	1	0	DIS3L	64408726	0.150000	0.22732	0.044000	0.18714	0.395000	0.30598	1.410000	0.34691	0.491000	0.27793	0.533000	0.62120	AAG		0.333	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2		NM_133375		7	64	0	0	0	0.001984	0	7	64		
CCDC33	80125	broad.mit.edu	37	15	74573023	74573023	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:74573023C>G	ENST00000398814.3	+	9	1335	c.904C>G	c.(904-906)Ccg>Gcg	p.P302A	CCDC33_ENST00000321288.5_Missense_Mutation_p.P505A	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	505	C2.							p.P302A(1)|p.P505A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGCCAGCCGTGGACCCT	0.582																																						uc002axo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)	5						c.(904-906)CCG>GCG		coiled-coil domain containing 33 isoform 1							81.0	92.0	89.0					15																	74573023		1914	4126	6040	SO:0001583	missense	80125						protein binding	g.chr15:74573023C>G	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.904C>G	15.37:g.74573023C>G	ENSP00000381795:p.Pro302Ala					CCDC33_uc002axp.2_Missense_Mutation_p.P124A	p.P302A	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			9	1298	+			505					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.904C>G	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	6.106	0.387907	0.11581	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.22134	1.97;2.3	5.28	3.04	0.35103	.	0.277119	0.29139	N	0.013038	T	0.19087	0.0458	M	0.63428	1.95	0.09310	N	1	P;P	0.44090	0.826;0.496	B;B	0.39152	0.292;0.269	T	0.10636	-1.0621	10	0.29301	T	0.29	.	8.2809	0.31900	0.0:0.7863:0.0:0.2137	.	505;302	C9JFX2;Q8N5R6-6	.;.	A	505;302	ENSP00000325012:P505A;ENSP00000381795:P302A	ENSP00000325012:P505A	P	+	1	0	CCDC33	72360076	0.018000	0.18449	0.025000	0.17156	0.242000	0.25591	0.485000	0.22324	1.211000	0.43351	0.591000	0.81541	CCG		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791		7	67	0	0	0	0.001984	0	7	67		
LMAN1L	79748	broad.mit.edu	37	15	75116785	75116785	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:75116785C>G	ENST00000309664.5	+	13	1556	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	LMAN1L_ENST00000379709.3_Missense_Mutation_p.Q461E|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	473						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q473E(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCTCATTCAGACTGTAGG	0.597																																						uc002ayt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1417-1419)CAG>GAG		lectin, mannose-binding, 1 like precursor							120.0	117.0	118.0					15																	75116785		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116785C>G	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1417C>G	15.37:g.75116785C>G	ENSP00000310431:p.Gln473Glu					LMAN1L_uc010bke.1_Missense_Mutation_p.Q461E|CPLX3_uc002ayu.1_5'Flank	p.Q473E	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			13	1419	+			473			Helical; (Potential).		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1417C>G	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249600	0.59212	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.57595	0.39;0.42	4.88	4.88	0.63580	.	0.000000	0.56097	D	0.000024	T	0.65207	0.2669	L	0.46157	1.445	0.54753	D	0.999985	D;D	0.61697	0.99;0.984	D;D	0.73380	0.98;0.956	T	0.67806	-0.5575	10	0.87932	D	0	.	13.8981	0.63785	0.0:1.0:0.0:0.0	.	461;473	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	E	473;461	ENSP00000310431:Q473E;ENSP00000369031:Q461E	ENSP00000310431:Q473E	Q	+	1	0	LMAN1L	72903838	0.985000	0.35326	0.897000	0.35233	0.504000	0.33889	3.409000	0.52657	2.429000	0.82318	0.561000	0.74099	CAG		0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4				7	122	0	0	0	0.00308	0	7	122		
TMC3	342125	broad.mit.edu	37	15	81628953	81628953	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:81628953C>G	ENST00000359440.5	-	20	2335	c.2200G>C	c.(2200-2202)Gaa>Caa	p.E734Q	RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E735Q|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.E734Q(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TACTTACCTTCTACCATCTGG	0.413																																						uc002bgo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|liver(1)	2						c.(2200-2202)GAA>CAA		transmembrane channel-like 3							261.0	257.0	258.0					15																	81628953		1895	4107	6002	SO:0001583	missense	342125					integral to membrane		g.chr15:81628953C>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2200G>C	15.37:g.81628953C>G	ENSP00000352413:p.Glu734Gln					TMC3_uc010blr.1_RNA	p.E734Q	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			20	2200	-			734	E -> EGK (in Ref. 1; AAP78778).		Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2200G>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594982	0.46318	.	.	ENSG00000188869	ENST00000359440	T	0.63580	-0.05	5.17	5.17	0.71159	.	0.941305	0.08678	U	0.909896	T	0.63153	0.2487	M	0.61703	1.905	0.24143	N	0.995724	B	0.33512	0.415	B	0.32864	0.154	T	0.55205	-0.8177	10	0.24483	T	0.36	-14.5249	16.8539	0.86000	0.0:1.0:0.0:0.0	.	734	Q7Z5M5	TMC3_HUMAN	Q	734	ENSP00000352413:E734Q	ENSP00000352413:E734Q	E	-	1	0	TMC3	79416008	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.315000	0.65810	2.383000	0.81215	0.555000	0.69702	GAA		0.413	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841		7	159	0	0	0	0.001984	0	7	159		
KIF7	374654	broad.mit.edu	37	15	90172769	90172769	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr15:90172769C>G	ENST00000394412.3	-	17	3430	c.3354G>C	c.(3352-3354)caG>caC	p.Q1118H	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1118					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q605H(1)|p.Q1118H(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGAAGGCAATCTGCTGCTGGT	0.622																																						uc002bof.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)	3						c.(3352-3354)CAG>CAC		kinesin family member 7							72.0	68.0	70.0					15																	90172769		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172769C>G	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3354G>C	15.37:g.90172769C>G	ENSP00000377934:p.Gln1118His					KIF7_uc010upw.1_Missense_Mutation_p.Q604H|C15orf42_uc010upv.1_RNA	p.Q1118H	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	3431	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1118			Potential.		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3354G>C	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580088	0.65992	.	.	ENSG00000166813	ENST00000394412	T	0.71579	-0.58	5.06	3.1	0.35709	.	0.109041	0.64402	D	0.000004	T	0.51753	0.1693	N	0.17474	0.49	0.48975	D	0.999732	B;B	0.18310	0.027;0.006	B;B	0.17433	0.018;0.003	T	0.53788	-0.8389	10	0.52906	T	0.07	.	9.5829	0.39499	0.0:0.6745:0.239:0.0865	.	604;1118	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	H	1118	ENSP00000377934:Q1118H	ENSP00000377934:Q1118H	Q	-	3	2	KIF7	87973773	1.000000	0.71417	0.936000	0.37596	0.991000	0.79684	1.642000	0.37207	2.635000	0.89317	0.462000	0.41574	CAG		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1		NM_198525		13	61	0	0	0	0.00499	0	13	61		
WDR24	84219	broad.mit.edu	37	16	737292	737292	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:737292C>T	ENST00000248142.6	-	7	1173	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.E262K|JMJD8_ENST00000412368.2_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	392								p.E262K(1)|p.E392K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGGCGGCACTCTGGCCGCCAC	0.617																																						uc002ciz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(784-786)GAG>AAG		WD repeat domain 24							30.0	35.0	33.0					16																	737292		2200	4299	6499	SO:0001583	missense	84219							g.chr16:737292C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1174G>A	16.37:g.737292C>T	ENSP00000248142:p.Glu392Lys					JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	p.E262K	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			3	1544	-		Hepatocellular(780;0.0218)	348			WD 4.		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.784G>A		.	.	.	.	.	.	.	.	.	.	C	19.94	3.920658	0.73213	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77489	-1.1;0.35	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.47716	1.5	0.80722	D	1	B	0.19200	0.034	B	0.21708	0.036	T	0.69292	-0.5183	10	0.34782	T	0.22	-13.6779	16.2441	0.82431	0.0:1.0:0.0:0.0	.	262	Q96S15-2	.	K	392;262	ENSP00000248142:E392K;ENSP00000293883:E262K	ENSP00000248142:E392K	E	-	1	0	WDR24	677293	1.000000	0.71417	0.947000	0.38551	0.913000	0.54294	6.948000	0.75965	2.371000	0.80710	0.655000	0.94253	GAG		0.617	WDR24-201	KNOWN	basic	protein_coding	protein_coding			NM_032259		4	15	0	0	0	0.001984	0	4	15		
ZC3H7A	29066	broad.mit.edu	37	16	11855265	11855265	+	Silent	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:11855265A>G	ENST00000396516.2	-	18	2513	c.2316T>C	c.(2314-2316)ttT>ttC	p.F772F	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Silent_p.F772F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	772						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F772F(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TATGTACATCAAACTGTAAAG	0.363																																						uc002dbk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2314-2316)TTT>TTC		zinc finger CCCH-type containing 7A							174.0	172.0	173.0					16																	11855265		2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11855265A>G	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2316T>C	16.37:g.11855265A>G						ZC3H7A_uc002dbi.2_5'Flank|ZC3H7A_uc002dbj.2_Intron|ZC3H7A_uc002dbl.2_Silent_p.F772F|ZC3H7A_uc002dbm.1_Silent_p.F682F	p.F772F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			18	2514	-			772			C3H1-type 2.		D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.2316T>C	CCDS10550.1																																																																																				0.363	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1		NM_014153		22	197	0	0	0	0.00333	0	22	197		
C16orf62	57020	broad.mit.edu	37	16	19693640	19693640	+	Missense_Mutation	SNP	C	C	T	rs370516328		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:19693640C>T	ENST00000251143.5	+	28	2467	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	C16orf62_ENST00000417362.2_Missense_Mutation_p.R726C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R908C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R669C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R568C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R815C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	819						integral component of membrane (GO:0016021)		p.R819S(1)|p.R908C(1)|p.R819C(1)|p.R908S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGAGAAAATCCGCATCTACAC	0.532																																						uc002dgn.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	ovary(1)	1						c.(2455-2457)CGC>TGC		hypothetical protein LOC57020		C	CYS/ARG	0,4394		0,0,2197	157.0	132.0	140.0		2722	5.5	1.0	16		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	C16orf62	NM_020314.5	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	908/1053	19693640	1,12993	2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19693640C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2455C>T	16.37:g.19693640C>T	ENSP00000251143:p.Arg819Cys					C16orf62_uc002dgo.1_Missense_Mutation_p.R726C|C16orf62_uc002dgp.1_Missense_Mutation_p.R568C	p.R819C	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			28	2467	+			819					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2455C>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.365819	0.82463	0.0	1.16E-4	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.66815	-0.23;1.74;-0.23;1.77;-0.23	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.799;0.997	T	0.81187	-0.1047	9	.	.	.	-19.9842	15.1535	0.72720	0.1498:0.8502:0.0:0.0	.	815;819	F5H7K1;Q7Z3J2	.;CP062_HUMAN	C	908;815;819;726;669	ENSP00000400815:R908C;ENSP00000442468:R815C;ENSP00000251143:R819C;ENSP00000395973:R726C;ENSP00000398009:R669C	.	R	+	1	0	C16orf62	19601141	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.905000	0.56333	2.598000	0.87819	0.561000	0.74099	CGC		0.532	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314		8	88	0	0	0	0.004482	0	8	88		
ZNF319	57567	broad.mit.edu	37	16	58030577	58030577	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:58030577C>G	ENST00000299237.2	-	2	2215	c.1593G>C	c.(1591-1593)aaG>aaC	p.K531N	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K531N(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCCCTGGTGCTTGTTGAGAT	0.637																																						uc002emx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1591-1593)AAG>AAC		zinc finger protein 319							60.0	47.0	51.0					16																	58030577		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030577C>G	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1593G>C	16.37:g.58030577C>G	ENSP00000299237:p.Lys531Asn						p.K531N	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	2216	-			531			C2H2-type 15.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1593G>C	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914971	0.33815	.	.	ENSG00000166188	ENST00000299237	T	0.07567	3.18	5.21	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.31371	0.925	0.48762	D	0.999701	D	0.89917	1.0	D	0.79784	0.993	T	0.21109	-1.0255	10	0.17832	T	0.49	-17.3658	7.9911	0.30242	0.0:0.6526:0.0:0.3474	.	531	Q9P2F9	ZN319_HUMAN	N	531	ENSP00000299237:K531N	ENSP00000299237:K531N	K	-	3	2	ZNF319	56588078	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.021000	0.30040	0.491000	0.27793	-0.136000	0.14681	AAG		0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1				4	13	0	0	0	0.009096	0	4	13		
CMTM2	146225	broad.mit.edu	37	16	66621981	66621981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66621981G>C	ENST00000268595.2	+	4	857	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	CMTM2_ENST00000379486.2_Missense_Mutation_p.E183Q	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	236					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E236Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		CAAGCCACCAGAACCTGGCAA	0.532																																						uc002ept.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(706-708)GAA>CAA		chemokine-like factor superfamily 2							56.0	60.0	59.0					16																	66621981		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66621981G>C	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.706G>C	16.37:g.66621981G>C	ENSP00000268595:p.Glu236Gln					CMTM2_uc010cdu.2_Missense_Mutation_p.E183Q	p.E236Q	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	4	866	+		Ovarian(137;0.0563)	236					Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.706G>C	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	7.804	0.714238	0.15306	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.50813	0.73;1.3	3.46	0.753	0.18404	.	.	.	.	.	T	0.32224	0.0822	L	0.36672	1.1	0.09310	N	1	P;P	0.41848	0.763;0.763	B;B	0.38803	0.282;0.282	T	0.12167	-1.0558	9	0.36615	T	0.2	-0.0967	4.7511	0.13061	0.1448:0.2118:0.6434:0.0	.	183;236	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	Q	183;236	ENSP00000368800:E183Q;ENSP00000268595:E236Q	ENSP00000268595:E236Q	E	+	1	0	CMTM2	65179482	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.369000	0.07533	0.188000	0.20168	0.561000	0.74099	GAA		0.532	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1				4	75	0	0	0	0.006214	0	4	75		
NAE1	8883	broad.mit.edu	37	16	66847711	66847711	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:66847711G>C	ENST00000290810.3	-	12	976	c.879C>G	c.(877-879)cgC>cgG	p.R293R	NAE1_ENST00000394074.2_Silent_p.R204R|NAE1_ENST00000379463.2_Silent_p.R287R|NAE1_ENST00000359087.4_Silent_p.R296R			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	293					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.R293R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTATGCAGCGATCATCAT	0.308																																						uc002eqf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(877-879)CGC>CGG		NEDD8 activating enzyme E1 subunit 1 isoform a	Adenosine triphosphate(DB00171)						163.0	163.0	163.0					16																	66847711		2200	4299	6499	SO:0001819	synonymous_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66847711G>C	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.879C>G	16.37:g.66847711G>C						NAE1_uc002eqe.2_Silent_p.R287R|NAE1_uc002eqg.2_Silent_p.R204R|NAE1_uc010cdv.2_Silent_p.R296R	p.R293R	NM_003905	NP_003896	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	12	956	-		Ovarian(137;0.0563)	293					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Silent	SNP	ENST00000290810.3	37	c.879C>G	CCDS10820.1																																																																																				0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1		NM_003905		11	136	0	0	0	0.000978	0	11	136		
FHOD1	29109	broad.mit.edu	37	16	67264128	67264128	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67264128C>G	ENST00000258201.4	-	20	3302	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1019					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.E1019Q(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGAACTTCTCTGTCTGGAGA	0.592																																						uc002esl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(3055-3057)GAG>CAG		formin homology 2 domain containing 1							43.0	48.0	46.0					16																	67264128		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264128C>G	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3055G>C	16.37:g.67264128C>G	ENSP00000258201:p.Glu1019Gln					FHOD1_uc002esk.2_Missense_Mutation_p.E78Q|FHOD1_uc010ced.2_Missense_Mutation_p.E826Q	p.E1019Q	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	20	3167	-		Ovarian(137;0.0563)	1019					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3055G>C	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523902	0.27299	.	.	ENSG00000135723	ENST00000258201	T	0.37584	1.19	5.85	4.9	0.64082	Actin-binding FH2/DRF autoregulatory (1);	0.108713	0.64402	D	0.000007	T	0.34106	0.0886	L	0.53249	1.67	0.48288	D	0.999628	P	0.39964	0.697	B	0.39299	0.296	T	0.07309	-1.0779	10	0.40728	T	0.16	.	11.3672	0.49679	0.0:0.9168:0.0:0.0832	.	1019	Q9Y613	FHOD1_HUMAN	Q	1019	ENSP00000258201:E1019Q	ENSP00000258201:E1019Q	E	-	1	0	FHOD1	65821629	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.064000	0.57506	2.771000	0.95319	0.561000	0.74099	GAG		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				6	74	0	0	0	0.001984	0	6	74		
FAM65A	79567	broad.mit.edu	37	16	67578917	67578917	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67578917G>T	ENST00000379312.3	+	17	3061	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.E976D|FAM65A_ENST00000422602.2_Missense_Mutation_p.E996D|FAM65A_ENST00000540839.3_Missense_Mutation_p.E995D|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.E990D	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	980						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E976D(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGTGCACAGAGAGACTCAGCT	0.642																																						uc010vjp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2986-2988)GAG>GAT		hypothetical protein LOC79567							145.0	146.0	146.0					16																	67578917		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578917G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2940G>T	16.37:g.67578917G>T	ENSP00000368614:p.Glu980Asp					FAM65A_uc002eth.2_Missense_Mutation_p.E976D|FAM65A_uc010cej.2_Missense_Mutation_p.E979D|FAM65A_uc010vjq.1_Missense_Mutation_p.E990D|FAM65A_uc002etk.2_Missense_Mutation_p.E974D	p.E996D	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3084	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	980					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.2988G>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329591|1.329591	0.24167|0.24167	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.296283|0.296283	0.36854|0.36854	N|N	0.002376|0.002376	T|.	0.34542|.	0.0901|.	L|L	0.33485|0.33485	1.01|1.01	0.25986|0.25986	N|N	0.98231|0.98231	B;B;B|.	0.27450|.	0.179;0.179;0.179|.	B;B;B|.	0.28638|.	0.092;0.092;0.092|.	T|.	0.23013|.	-1.0200|.	10|.	0.13853|0.19147	T|T	0.58|0.46	-11.0762|-11.0762	10.4486|10.4486	0.44509|0.44509	0.134:0.0:0.866:0.0|0.134:0.0:0.866:0.0	.|.	990;996;980|.	B4DIM2;E9PBS3;Q6ZS17|.	.;.;FA65A_HUMAN|.	D|X	980;976;996;990|970	ENSP00000368614:E980D;ENSP00000042381:E976D;ENSP00000400099:E996D|.	ENSP00000042381:E976D|ENSP00000389456:E970X	E|E	+|+	3|1	2|0	FAM65A|FAM65A	66136418|66136418	0.961000|0.961000	0.32948|0.32948	1.000000|1.000000	0.80357|0.80357	0.250000|0.250000	0.25880|0.25880	0.798000|0.798000	0.27014|0.27014	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.642	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519		10	272	1	0	2.27111e-07	0.001368	2.41558e-07	10	272		
PARD6A	50855	broad.mit.edu	37	16	67695398	67695398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67695398C>A	ENST00000219255.3	+	2	184	c.104C>A	c.(103-105)tCg>tAg	p.S35*	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.S35*|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.S35*			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	35	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.S35*(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTCGCGCTTCGGTGAGCGGC	0.657																																						uc002ett.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(103-105)TCG>TAG		par-6 partitioning defective 6 homolog alpha							59.0	65.0	63.0					16																	67695398		2198	4300	6498	SO:0001587	stop_gained	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695398C>A		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.104C>A	16.37:g.67695398C>A	ENSP00000219255:p.Ser35*					ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Nonsense_Mutation_p.S35*|PARD6A_uc002etu.2_5'UTR	p.S35*	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	195	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	35			Interaction with PRKCI and PRKCZ.|OPR.		O14911|Q9NPJ7	Nonsense_Mutation	SNP	ENST00000219255.3	37	c.104C>A	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008099	0.75046	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.4	4.44	0.53790	.	0.523251	0.19007	N	0.125191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.3154	10.275	0.43504	0.1522:0.7011:0.1468:0.0	.	.	.	.	X	35	.	ENSP00000219255:S35X	S	+	2	0	PARD6A	66252899	0.000000	0.05858	0.728000	0.30774	0.984000	0.73092	0.670000	0.25157	1.253000	0.44018	0.462000	0.41574	TCG		0.657	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		18	78	1	0	1.15919e-05	0.008871	1.21744e-05	18	78		
PARD6A	50855	broad.mit.edu	37	16	67696109	67696109	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:67696109G>C	ENST00000219255.3	+	3	680	c.600G>C	c.(598-600)ggG>ggC	p.G200G	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Silent_p.G199G|PARD6A_ENST00000602551.1_Silent_p.G170G			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	200	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.G200G(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGTACGTGGGGGTCTGGCTG	0.612																																						uc002ett.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(598-600)GGG>GGC		par-6 partitioning defective 6 homolog alpha							101.0	94.0	96.0					16																	67696109		2198	4300	6498	SO:0001819	synonymous_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67696109G>C		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.600G>C	16.37:g.67696109G>C						ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.G199G|PARD6A_uc002etu.2_Silent_p.G24G	p.G200G	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	691	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	200			PDZ.|Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Silent	SNP	ENST00000219255.3	37	c.600G>C	CCDS10843.1																																																																																				0.612	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		9	83	0	0	0	0.001368	0	9	83		
MARVELD3	91862	broad.mit.edu	37	16	71668136	71668136	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:71668136C>T	ENST00000268485.3	+	3	680	c.636C>T	c.(634-636)atC>atT	p.I212I	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Missense_Mutation_p.P26S	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	212	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.I212I(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACTTGCTGATCCTGGCCTGCA	0.527																																						uc002fat.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(634-636)ATC>ATT		MARVEL domain containing 3 isoform 2							81.0	82.0	82.0					16																	71668136		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71668136C>T	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.636C>T	16.37:g.71668136C>T						MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	p.I212I	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			3	699	+		Ovarian(137;0.125)	212			MARVEL.|Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.636C>T	CCDS10904.1																																																																																				0.527	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2		NM_052858		178	99	0	0	0	0.00361	0	178	99		
MBTPS1	8720	broad.mit.edu	37	16	84135448	84135448	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:84135448G>C	ENST00000343411.3	-	0	436					NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTCTTCTTGATTAAAAGTG	0.348																																						uc002fhi.2		NaN																	0				ovary(2)	2						c.(-61--57)ATCAA>ATGAA		membrane-bound transcription factor site-1																																						8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84135448G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.-60C>G	16.37:g.84135448G>C								NM_003791	NP_003782	Q14703	MBTP1_HUMAN			2	443	-								A8K6V8|Q24JQ2|Q9UF67	Translation_Start_Site	SNP	ENST00000343411.3	37	c.-59C>G	CCDS10941.1																																																																																				0.348	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791		7	35	0	0	0	0.001984	0	7	35		
ACSF3	197322	broad.mit.edu	37	16	89211739	89211739	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr16:89211739C>G	ENST00000317447.4	+	9	1808	c.1431C>G	c.(1429-1431)atC>atG	p.I477M	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Missense_Mutation_p.I212M|ACSF3_ENST00000406948.3_Missense_Mutation_p.I477M	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	477					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.I477M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGACATCATCAAGACTGGAG	0.622																																						uc002fmp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1429-1431)ATC>ATG		acyl-CoA synthetase family member 3 precursor							102.0	90.0	94.0					16																	89211739		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89211739C>G	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1431C>G	16.37:g.89211739C>G	ENSP00000320646:p.Ile477Met					ACSF3_uc010cig.1_Missense_Mutation_p.I477M|ACSF3_uc010cih.1_Missense_Mutation_p.I212M|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.I212M	p.I477M	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	9	1771	+			477					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.1431C>G	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.973574	0.53720	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.68	2.67	0.31697	AMP-dependent synthetase/ligase (1);	0.156035	0.45606	U	0.000360	T	0.72843	0.3511	M	0.91090	3.175	0.40582	D	0.981402	D	0.60575	0.988	D	0.65573	0.936	T	0.76677	-0.2871	10	0.87932	D	0	-25.745	8.6856	0.34236	0.0:0.7516:0.0:0.2484	.	477	Q4G176	ACSF3_HUMAN	M	477;477;212;212	ENSP00000320646:I477M;ENSP00000384627:I477M;ENSP00000367596:I212M;ENSP00000442781:I212M	ENSP00000320646:I477M	I	+	3	3	ACSF3	87739240	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.489000	0.35562	0.961000	0.38030	0.306000	0.20318	ATC		0.622	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1		NM_174917		6	22	0	0	0	0.00308	0	6	22		
ANKFY1	51479	broad.mit.edu	37	17	4086740	4086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:4086740G>C	ENST00000341657.4	-	14	1940	c.1905C>G	c.(1903-1905)agC>agG	p.S635R	ANKFY1_ENST00000570535.1_Missense_Mutation_p.S677R|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000573722.1_5'Flank|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S635R	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	635					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)	p.S635R(1)		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						GTGCGCTCTTGCTGTCCTGCC	0.557																																						uc002fxq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1903-1905)AGC>AGG		ankyrin repeat and FYVE domain containing 1							76.0	79.0	78.0					17																	4086740		2109	4245	6354	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4086740G>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.1905C>G	17.37:g.4086740G>C	ENSP00000343362:p.Ser635Arg					ANKFY1_uc002fxn.2_Missense_Mutation_p.S677R|ANKFY1_uc002fxo.2_Missense_Mutation_p.S635R|ANKFY1_uc002fxp.2_Missense_Mutation_p.S634R|ANKFY1_uc010ckp.2_Missense_Mutation_p.S576R	p.S635R	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			14	1943	-			635			ANK 9.		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1905C>G		.	.	.	.	.	.	.	.	.	.	G	19.27	3.795435	0.70452	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.52983	0.64	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.087564	0.85682	D	0.000000	T	0.39708	0.1088	L	0.28274	0.84	0.80722	D	1	P;P;P;P	0.46220	0.874;0.523;0.467;0.61	P;B;B;B	0.48270	0.572;0.305;0.202;0.202	T	0.08848	-1.0702	10	0.15499	T	0.54	-14.9071	11.4821	0.50331	0.0913:0.0:0.9087:0.0	.	576;635;635;677	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	R	635;576	ENSP00000343362:S635R	ENSP00000343362:S635R	S	-	3	2	ANKFY1	4033489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.451000	0.73481	2.503000	0.84419	0.655000	0.94253	AGC		0.557	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		10	50	0	0	0	0.008291	0	10	50		
ZNF594	84622	broad.mit.edu	37	17	5086349	5086349	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:5086349C>T	ENST00000399604.4	-	1	1343	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	ZNF594_ENST00000575779.1_Silent_p.E401E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E401E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATATGGTTTCTCTCCTGTAT	0.408																																						uc010cla.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1201-1203)GAG>GAA		zinc finger protein 594							162.0	165.0	164.0					17																	5086349		2060	4219	6279	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086349C>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1203G>A	17.37:g.5086349C>T							p.E401E	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1359	-			401					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.1203G>A	CCDS42241.1																																																																																				0.408	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		17	303	0	0	0	0.00499	0	17	303		
TP53	7157	broad.mit.edu	37	17	7577121	7577122	+	Missense_Mutation	DNP	GC	GC	TT	rs121913343		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			GC	TT	GC	GC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7577121_7577122GC>TT	ENST00000269305.4	-	8	1005_1006	c.816_817GC>AA	c.(814-819)gtGCgt>gtAAgt	p.R273S	TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.V272V(5)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAGC	0.54	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		538	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Substitution - coding silent(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.V272V(3)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273R(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(110)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(25)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|pancreas(16)|bone(16)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(814-819)GTGCGT>GTAAGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121_7577122GC>TT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.816_817delinsTT	17.37:g.7577121_7577122delinsTT	ENSP00000269305:p.Arg273Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141S|TP53_uc010cng.1_Missense_Mutation_p.R141S|TP53_uc002gii.1_Missense_Mutation_p.R141S|TP53_uc010cnh.1_Missense_Mutation_p.R273S|TP53_uc010cni.1_Missense_Mutation_p.R273S|TP53_uc002gij.2_Missense_Mutation_p.R273S	p.R273S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1010_1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	DNP	ENST00000269305.4	37	c.816_817GC>AA	CCDS11118.1																																																																																				0.540	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		7	10	0	0	0	0.004672	0	7	10		
CHD3	1107	broad.mit.edu	37	17	7806657	7806657	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:7806657C>T	ENST00000330494.7	+	23	3713	c.3563C>T	c.(3562-3564)gCg>gTg	p.A1188V	CHD3_ENST00000380358.4_Missense_Mutation_p.A1247V|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.A1188V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1188	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A1188V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGACTCGCGCGTCAGTGGAA	0.582																																						uc002gje.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(3562-3564)GCG>GTG		chromodomain helicase DNA binding protein 3							71.0	73.0	72.0					17																	7806657		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806657C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3563C>T	17.37:g.7806657C>T	ENSP00000332628:p.Ala1188Val					CHD3_uc002gjd.2_Missense_Mutation_p.A1247V|CHD3_uc002gjf.2_Missense_Mutation_p.A1188V|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	p.A1188V	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			23	3713	+		Prostate(122;0.202)	1188			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3563C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684524	0.68157	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75589	-0.95;-0.95;-0.95	4.9	4.9	0.64082	Helicase, C-terminal (1);	0.000000	0.44688	D	0.000426	D	0.84561	0.5499	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.98;0.986	D	0.84953	0.0872	10	0.51188	T	0.08	-17.3623	18.2598	0.90031	0.0:1.0:0.0:0.0	.	1188;1188;1247	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	1247;1188;1188	ENSP00000369716:A1247V;ENSP00000350907:A1188V;ENSP00000332628:A1188V	ENSP00000332628:A1188V	A	+	2	0	CHD3	7747382	1.000000	0.71417	0.134000	0.22075	0.747000	0.42532	5.838000	0.69388	2.536000	0.85505	0.491000	0.48974	GCG		0.582	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		4	54	0	0	0	0.000602	0	4	54		
MYH4	4622	broad.mit.edu	37	17	10351974	10351974	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:10351974G>C	ENST00000255381.2	-	32	4602	c.4492C>G	c.(4492-4494)Cat>Gat	p.H1498D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1498					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.H1498D(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTCAAGATGATCCAGGGAT	0.428																																						uc002gmn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4492-4494)CAT>GAT		myosin, heavy polypeptide 4, skeletal muscle							107.0	108.0	108.0					17																	10351974		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351974G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4492C>G	17.37:g.10351974G>C	ENSP00000255381:p.His1498Asp					uc002gml.1_Intron	p.H1498D	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4603	-			1498			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4492C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298179	0.60195	.	.	ENSG00000141048	ENST00000255381	D	0.82526	-1.62	5.34	5.34	0.76211	Myosin tail (1);	0.443154	0.16214	U	0.224355	D	0.86205	0.5877	M	0.84326	2.69	0.54753	D	0.999989	B	0.14805	0.011	B	0.21360	0.034	T	0.82910	-0.0223	10	0.54805	T	0.06	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	1498	Q9Y623	MYH4_HUMAN	D	1498	ENSP00000255381:H1498D	ENSP00000255381:H1498D	H	-	1	0	MYH4	10292699	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	7.950000	0.87804	2.666000	0.90696	0.655000	0.94253	CAT		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533		6	150	0	0	0	0.006214	0	6	150		
AKAP10	11216	broad.mit.edu	37	17	19861601	19861601	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:19861601A>T	ENST00000225737.6	-	4	760	c.603T>A	c.(601-603)gaT>gaA	p.D201E	AKAP10_ENST00000395536.3_Missense_Mutation_p.D201E|AKAP10_ENST00000572155.1_5'Flank	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	201	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.D201E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TATCAAGAGAATCAGTTAAAA	0.408																																						uc002gwo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(601-603)GAT>GAA		A-kinase anchor protein 10 precursor							68.0	68.0	68.0					17																	19861601		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861601A>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.603T>A	17.37:g.19861601A>T	ENSP00000225737:p.Asp201Glu					AKAP10_uc002gwp.1_Missense_Mutation_p.D201E|AKAP10_uc010cqw.1_Missense_Mutation_p.D201E|AKAP10_uc010vze.1_Missense_Mutation_p.D122E	p.D201E	NM_007202	NP_009133	O43572	AKA10_HUMAN			4	740	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		201			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.603T>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	1.709	-0.499463	0.04291	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.15487	2.42	5.98	0.586	0.17434	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.543594	0.22002	N	0.065981	T	0.04048	0.0113	N	0.01705	-0.755	0.23816	N	0.996768	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.38607	-0.9653	10	0.08599	T	0.76	-1.1821	3.0257	0.06090	0.1205:0.3701:0.3301:0.1793	.	201;201;201	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	E	201	ENSP00000225737:D201E	ENSP00000225737:D201E	D	-	3	2	AKAP10	19802193	0.221000	0.23642	0.992000	0.48379	0.360000	0.29518	-0.016000	0.12613	0.122000	0.18314	-0.452000	0.05504	GAT		0.408	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2		NM_007202		12	37	0	0	0	0.001368	0	12	37		
ZNF207	7756	broad.mit.edu	37	17	30678830	30678830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:30678830G>A	ENST00000321233.6	+	2	221	c.67G>A	c.(67-69)Gag>Aag	p.E23K	ZNF207_ENST00000341711.6_Missense_Mutation_p.E23K|ZNF207_ENST00000394673.2_Missense_Mutation_p.E23K|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.E23K|ZNF207_ENST00000577908.1_Missense_Mutation_p.E23K|ZNF207_ENST00000342555.6_Missense_Mutation_p.E26K|MIR632_ENST00000385193.1_RNA	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	23	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E23K(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTTGATGATGAGAAGATCCT	0.338																																						uc002hhh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(67-69)GAG>AAG		zinc finger protein 207 isoform a							105.0	101.0	102.0					17																	30678830		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30678830G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.67G>A	17.37:g.30678830G>A	ENSP00000322777:p.Glu23Lys					ZNF207_uc002hhj.3_Missense_Mutation_p.E23K|ZNF207_uc002hhi.3_Missense_Mutation_p.E23K|ZNF207_uc010csz.2_Missense_Mutation_p.E26K|ZNF207_uc002hhk.1_Missense_Mutation_p.E23K	p.E23K	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	215	+		Breast(31;0.116)|Ovarian(249;0.182)	23			C2H2-type 1.		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.67G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834255	0.91036	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.46567	1.45	0.58432	D	0.999991	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996	D;D;D;D;D	0.73708	0.981;0.981;0.981;0.981;0.981	T	0.71417	-0.4599	10	0.49607	T	0.09	.	18.549	0.91057	0.0:0.0:1.0:0.0	.	23;26;23;23;23	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	K	23;23;26;23;23;23	ENSP00000378165:E23K;ENSP00000378168:E23K;ENSP00000322777:E23K;ENSP00000344913:E23K	ENSP00000322777:E23K	E	+	1	0	ZNF207	27702943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.459000	0.83118	0.655000	0.94253	GAG		0.338	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2				18	616	0	0	0	0.007413	0	18	616		
MYO1D	4642	broad.mit.edu	37	17	31092057	31092057	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:31092057C>T	ENST00000318217.5	-	8	1178	c.874G>A	c.(874-876)Gag>Aag	p.E292K	MYO1D_ENST00000583621.1_Missense_Mutation_p.E292K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E204K|MYO1D_ENST00000579584.1_Missense_Mutation_p.E292K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	292	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E292K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGCCATTCTCAATAAGAGGC	0.368																																						uc002hho.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(874-876)GAG>AAG		myosin ID							108.0	99.0	102.0					17																	31092057		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31092057C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.874G>A	17.37:g.31092057C>T	ENSP00000324527:p.Glu292Lys					MYO1D_uc002hhp.1_Missense_Mutation_p.E292K|MYO1D_uc010wcb.1_Missense_Mutation_p.E292K	p.E292K	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		8	886	-			292			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.874G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319023	0.41096	.	.	ENSG00000176658	ENST00000318217	D	0.87412	-2.25	6.02	6.02	0.97574	Myosin head, motor domain (2);	0.000000	0.39687	U	0.001288	T	0.76702	0.4024	N	0.12502	0.225	0.80722	D	1	B;B	0.21381	0.055;0.055	B;B	0.25140	0.058;0.034	T	0.71434	-0.4594	10	0.06891	T	0.86	.	18.0409	0.89318	0.0:1.0:0.0:0.0	.	203;292	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	292	ENSP00000324527:E292K	ENSP00000324527:E292K	E	-	1	0	MYO1D	28116170	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	5.733000	0.68571	2.850000	0.98022	0.650000	0.86243	GAG		0.368	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1				7	350	0	0	0	0.00308	0	7	350		
EZH1	2145	broad.mit.edu	37	17	40874816	40874816	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40874816C>G	ENST00000428826.2	-	6	605	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	EZH1_ENST00000415827.2_Missense_Mutation_p.E153Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E122Q|EZH1_ENST00000590078.1_Missense_Mutation_p.E92Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E162Q|EZH1_ENST00000435174.1_Intron			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	162					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.E162Q(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCACTACCTTCTTCACCATGG	0.403																																						uc002iaz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(484-486)GAA>CAA		enhancer of zeste homolog 1							190.0	165.0	173.0					17																	40874816		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40874816C>G		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.484G>C	17.37:g.40874816C>G	ENSP00000404658:p.Glu162Gln					EZH1_uc002iba.2_Missense_Mutation_p.E153Q|EZH1_uc010wgt.1_Missense_Mutation_p.E92Q|EZH1_uc010wgu.1_Missense_Mutation_p.E168Q|EZH1_uc010wgv.1_Missense_Mutation_p.E122Q|EZH1_uc010wgw.1_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Missense_Mutation_p.E79Q|EZH1_uc010cys.2_Missense_Mutation_p.E113Q|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank	p.E162Q	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	6	629	-		Breast(137;0.00104)	162					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.484G>C	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917050	0.52546	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	T	0.77620	-1.11	4.45	4.45	0.53987	SANT domain, DNA binding (1);	0.095831	0.64402	D	0.000001	T	0.65439	0.2691	N	0.14661	0.345	0.80722	D	1	P;B;B	0.42518	0.782;0.356;0.133	B;B;B	0.40375	0.327;0.133;0.045	T	0.70306	-0.4908	10	0.44086	T	0.13	.	16.8679	0.86033	0.0:1.0:0.0:0.0	.	122;168;162	Q92800-3;Q92800-2;Q92800	.;.;EZH1_HUMAN	Q	165;162;122	ENSP00000404658:E162Q	ENSP00000264646:E165Q	E	-	1	0	EZH1	38128342	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.808000	0.55598	2.319000	0.78375	0.563000	0.77884	GAA		0.403	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1		NM_001991		3	95	0	0	0	0.004672	0	3	95		
EPN3	55040	broad.mit.edu	37	17	48618412	48618412	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:48618412C>T	ENST00000268933.3	+	7	1817	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.S441F	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	413						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)	p.S413F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTGGAGACCTCCGACACACCT	0.637																																						uc002ira.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1237-1239)TCC>TTC		epsin 3							27.0	32.0	30.0					17																	48618412		2173	4275	6448	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618412C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1238C>T	17.37:g.48618412C>T	ENSP00000268933:p.Ser413Phe					SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S441F|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S386F	p.S413F	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		7	1673	+	Breast(11;1.23e-18)		413					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.1238C>T	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	7.807	0.714972	0.15306	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.55413	0.52;0.52	5.17	3.18	0.36537	.	1.185250	0.05916	N	0.632613	T	0.50939	0.1645	L	0.56769	1.78	0.09310	N	0.999995	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.12156	0.003;0.007;0.005	T	0.41716	-0.9493	10	0.49607	T	0.09	-9.2981	8.1213	0.30974	0.0:0.7459:0.0:0.2541	.	441;441;413	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	F	413;441;441	ENSP00000268933:S413F;ENSP00000439512:S441F	ENSP00000268933:S413F	S	+	2	0	EPN3	45973411	0.002000	0.14202	0.022000	0.16811	0.423000	0.31445	0.584000	0.23864	0.581000	0.29539	0.561000	0.74099	TCC		0.637	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		15	16	0	0	0	0.00499	0	15	16		
APPBP2	10513	broad.mit.edu	37	17	58531675	58531675	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:58531675C>T	ENST00000083182.3	-	11	1613	c.1326G>A	c.(1324-1326)atG>atA	p.M442I		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	442					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.M442I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAAATTTTCTCATTGACTGAT	0.294																																						uc002iys.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1324-1326)ATG>ATA		amyloid beta precursor protein-binding protein							64.0	65.0	65.0					17																	58531675		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58531675C>T	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1326G>A	17.37:g.58531675C>T	ENSP00000083182:p.Met442Ile					APPBP2_uc010ddl.1_Missense_Mutation_p.M371I	p.M442I	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		11	1614	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		442			TPR 6.		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.1326G>A	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777944	0.90195	.	.	ENSG00000062725	ENST00000083182	T	0.62941	-0.01	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.87269	2.87	0.80722	D	1	B	0.19706	0.038	B	0.38880	0.284	T	0.76049	-0.3101	10	0.66056	D	0.02	-12.8153	19.6355	0.95731	0.0:1.0:0.0:0.0	.	442	Q92624	APBP2_HUMAN	I	442	ENSP00000083182:M442I	ENSP00000083182:M442I	M	-	3	0	APPBP2	55886457	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.456000	0.80751	2.646000	0.89796	0.561000	0.74099	ATG		0.294	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1		NM_006380		5	139	0	0	0	0.001168	0	5	139		
BRIP1	83990	broad.mit.edu	37	17	59763273	59763273	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59763273G>A	ENST00000259008.2	-	19	3096	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	BRIP1_ENST00000577598.1_Silent_p.V943V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	943	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V943V(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTAGTTCCTGGACACATATCT	0.363			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2827-2829)GTC>GTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							175.0	182.0	180.0					17																	59763273		2203	4300	6503	SO:0001819	synonymous_variant	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59763273G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2829C>T	17.37:g.59763273G>A						BRIP1_uc002izl.1_Silent_p.V324V	p.V943V	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	2970	-			943			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.2829C>T	CCDS11631.1																																																																																				0.363	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		44	323	0	0	0	0.00361	0	44	323		
BRIP1	83990	broad.mit.edu	37	17	59853848	59853848	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:59853848C>G	ENST00000259008.2	-	14	2278	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.E671Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	671					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E671Q(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTTGGAACTCAAATGTTTCA	0.418			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1	GRCh37	CI065815	BRIP1	I		c.(2011-2013)GAG>CAG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							127.0	120.0	122.0					17																	59853848		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59853848C>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2011G>C	17.37:g.59853848C>G	ENSP00000259008:p.Glu671Gln					BRIP1_uc002izl.1_Missense_Mutation_p.E52Q	p.E671Q	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			14	2152	-			671					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2011G>C	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024583	0.75390	.	.	ENSG00000136492	ENST00000259008	T	0.71934	-0.61	5.58	5.58	0.84498	.	0.366045	0.31392	N	0.007738	T	0.68550	0.3013	L	0.37850	1.14	0.36112	D	0.844842	D;D	0.56035	0.974;0.966	P;B	0.47470	0.548;0.446	T	0.72633	-0.4234	9	.	.	.	-10.2052	18.5507	0.91063	0.0:1.0:0.0:0.0	.	671;671	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	Q	671	ENSP00000259008:E671Q	.	E	-	1	0	BRIP1	57208630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.310000	0.51911	2.623000	0.88846	0.655000	0.94253	GAG		0.418	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		8	192	0	0	0	0.00308	0	8	192		
MED13	9969	broad.mit.edu	37	17	60023934	60023934	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:60023934G>C	ENST00000397786.2	-	30	6496	c.6420C>G	c.(6418-6420)ctC>ctG	p.L2140L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2140					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L2140L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAGCCAGGAGAGTGCATTGT	0.373																																						uc002izo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(6418-6420)CTC>CTG		mediator complex subunit 13							82.0	78.0	79.0					17																	60023934		1874	4108	5982	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60023934G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6420C>G	17.37:g.60023934G>C							p.L2140L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			30	6497	-			2140					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.6420C>G	CCDS42366.1																																																																																				0.373	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121		7	85	0	0	0	0.001984	0	7	85		
AXIN2	8313	broad.mit.edu	37	17	63532561	63532561	+	Missense_Mutation	SNP	G	G	T	rs576688801|rs151279728	byFrequency	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:63532561G>T	ENST00000375702.5	-	6	1931	c.1823C>A	c.(1822-1824)aCc>aAc	p.T608N	AXIN2_ENST00000307078.5_Missense_Mutation_p.T673N			Q9Y2T1	AXIN2_HUMAN	axin 2	652				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.T673N(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCACGGGGGGTGGTGCGGGG	0.682									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		15460	0.0		0.0	False		,,,				2504	0.001					uc002jfi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(2017-2019)ACC>AAC		axin 2							22.0	28.0	26.0					17																	63532561		2198	4298	6496	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532561G>T	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1823C>A	17.37:g.63532561G>T	ENSP00000364854:p.Thr608Asn					AXIN2_uc002jfh.2_Missense_Mutation_p.T608N	p.T673N	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			8	2307	-			673					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.2018C>A		.	.	.	.	.	.	.	.	.	.	G	5.681	0.310171	0.10733	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.64085	-0.08;-0.04	5.27	-1.66	0.08265	.	1.063310	0.07163	N	0.851044	T	0.39091	0.1065	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.12837	0.001;0.008	T	0.21280	-1.0250	10	0.16420	T	0.52	-0.0098	11.6606	0.51345	0.5284:0.0:0.4716:0.0	.	673;608	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	N	673;608	ENSP00000302625:T673N;ENSP00000364854:T608N	ENSP00000302625:T673N	T	-	2	0	AXIN2	60963023	0.745000	0.28261	0.014000	0.15608	0.858000	0.48976	1.020000	0.30027	-0.105000	0.12132	-0.136000	0.14681	ACC		0.682	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1		NM_004655		8	31	1	0	0.000274275	0.004482	0.000283079	8	31		
RNF157	114804	broad.mit.edu	37	17	74152378	74152378	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:74152378C>T	ENST00000269391.6	-	14	1570	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.E480K	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	480	Ser-rich.						zinc ion binding (GO:0008270)	p.E1083K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAGATTCTCACTTTCTGGA	0.562																																					GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1438-1440)GAG>AAG		ring finger protein 157							107.0	94.0	98.0					17																	74152378		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74152378C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1438G>A	17.37:g.74152378C>T	ENSP00000269391:p.Glu480Lys					RNF157_uc002jra.2_Missense_Mutation_p.E480K	p.E480K	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		14	1507	-			480			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1438G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429421	0.83776	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.28454	1.61;1.7	5.05	5.05	0.67936	.	0.096823	0.64402	D	0.000001	T	0.39358	0.1075	L	0.48642	1.525	0.80722	D	1	P;P	0.49559	0.925;0.512	P;B	0.49597	0.616;0.15	T	0.06752	-1.0809	10	0.37606	T	0.19	-28.5376	18.5986	0.91239	0.0:1.0:0.0:0.0	.	480;480	Q96PX1-2;Q96PX1	.;RN157_HUMAN	K	480	ENSP00000269391:E480K;ENSP00000321837:E480K	ENSP00000269391:E480K	E	-	1	0	RNF157	71663973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.407000	0.80029	2.615000	0.88500	0.563000	0.77884	GAG		0.562	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2		XM_290732		10	60	0	0	0	0.000978	0	10	60		
MRPL12	6182	broad.mit.edu	37	17	79674028	79674028	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:79674028C>G	ENST00000333676.3	+	4	583	c.438C>G	c.(436-438)atC>atG	p.I146M	SLC25A10_ENST00000541223.1_Missense_Mutation_p.I146M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.I146M	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	146					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I146M(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGAAGCTGATCAAGGAAATCA	0.582																																						uc010wut.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(436-438)ATC>ATG		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						79.0	68.0	72.0					17																	79674028		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79674028C>G	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.438C>G	17.37:g.79674028C>G	ENSP00000333837:p.Ile146Met					MRPL12_uc002kbh.1_Missense_Mutation_p.I146M	p.I146M	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	563	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		Error:Variant_position_missing_in_Q9UBX3_after_alignment					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.438C>G	CCDS11785.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717382	0.68844	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	D;T	0.89343	-2.5;-0.46	4.78	3.81	0.43845	Ribosomal protein L7/L12, C-terminal (2);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.982;1.0	D	0.97350	0.9963	10	0.87932	D	0	-24.8356	12.8442	0.57821	0.0:0.9215:0.0:0.0785	.	146;146	B4DLN1;P52815	.;RM12_HUMAN	M	146	ENSP00000439565:I146M;ENSP00000333837:I146M	ENSP00000330017:I146M	I	+	3	3	SLC25A10	77284433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.195000	0.42677	1.228000	0.43614	0.655000	0.94253	ATC		0.582	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1		NM_002949		5	54	0	0	0	0.000602	0	5	54		
C17orf62	79415	broad.mit.edu	37	17	80403819	80403819	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:80403819C>G	ENST00000437807.2	-	6	536	c.219G>C	c.(217-219)aaG>aaC	p.K73N	C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000578919.1_Missense_Mutation_p.K73N|C17orf62_ENST00000577436.1_Missense_Mutation_p.K59N|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.K73N|C17orf62_ENST00000434650.2_Missense_Mutation_p.K59N|C17orf62_ENST00000585064.1_Missense_Mutation_p.K73N|C17orf62_ENST00000585080.1_Missense_Mutation_p.K73N|C17orf62_ENST00000583617.1_Missense_Mutation_p.K73N|C17orf62_ENST00000577732.1_Missense_Mutation_p.K73N|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.K73N	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	73						integral component of membrane (GO:0016021)		p.K73N(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCCTGTGCTCTTGTCGAAGA	0.607																																						uc002kez.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(217-219)AAG>AAC		hypothetical protein LOC79415 isoform a							130.0	98.0	109.0					17																	80403819		2202	4300	6502	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80403819C>G	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.219G>C	17.37:g.80403819C>G	ENSP00000388909:p.Lys73Asn					C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.K73N|C17orf62_uc010dir.2_Missense_Mutation_p.K73N|C17orf62_uc002kfb.3_Missense_Mutation_p.K73N|C17orf62_uc002kfc.3_Missense_Mutation_p.K59N|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR|C17orf62_uc010dis.1_Missense_Mutation_p.K73N	p.K73N	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		4	267	-	Breast(20;0.00106)|all_neural(118;0.0804)		73					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.219G>C	CCDS32776.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536877	0.45176	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.75939	0.3918	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.78314	-0.2252	8	0.87932	D	0	.	10.6067	0.45398	0.0:0.9108:0.0:0.0892	.	59;73	E1B6X3;Q9BQA9	.;CQ062_HUMAN	N	73;73;59	.	ENSP00000307765:K73N	K	-	3	2	C17orf62	77997108	0.999000	0.42202	1.000000	0.80357	0.180000	0.23129	2.261000	0.43276	2.338000	0.79540	0.561000	0.74099	AAG		0.607	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1		NM_001033046		3	34	0	0	0	0.004672	0	3	34		
NDC80	10403	broad.mit.edu	37	18	2599084	2599084	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:2599084G>C	ENST00000261597.4	+	12	1470	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	430	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E430Q(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TAAAGGTGCTGAGAATTCCAA	0.353																																						uc002kli.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1288-1290)GAG>CAG		kinetochore associated 2							67.0	67.0	67.0					18																	2599084		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2599084G>C	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1288G>C	18.37:g.2599084G>C	ENSP00000261597:p.Glu430Gln						p.E430Q	NM_006101	NP_006092	O14777	NDC80_HUMAN			12	1470	+			430			Interaction with the N-terminus of CDCA1.|Interaction with PSMC2 and SMC1A.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1288G>C	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490797	0.84962	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.52295	0.67	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.58101	1.795	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.56553	-0.7960	10	0.21540	T	0.41	-16.5275	19.9052	0.97004	0.0:0.0:1.0:0.0	.	430	O14777	NDC80_HUMAN	Q	430	ENSP00000261597:E430Q	ENSP00000261597:E430Q	E	+	1	0	NDC80	2589084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.195000	0.89723	2.776000	0.95493	0.655000	0.94253	GAG		0.353	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101		12	78	0	0	0	0.000978	0	12	78		
MALT1	10892	broad.mit.edu	37	18	56402448	56402448	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:56402448A>T	ENST00000348428.3	+	13	1748	c.1490A>T	c.(1489-1491)gAa>gTa	p.E497V	MALT1_ENST00000345724.3_Missense_Mutation_p.E486V|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	497	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.E497V(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAAGGAGCAGAAGCTTTTGAA	0.323			T	BIRC3	MALT																																	uc002lhm.1		NaN		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1489-1491)GAA>GTA		mucosa associated lymphoid tissue lymphoma							36.0	40.0	38.0					18																	56402448		2199	4297	6496	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56402448A>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1490A>T	18.37:g.56402448A>T	ENSP00000319279:p.Glu497Val					MALT1_uc002lhn.1_Missense_Mutation_p.E486V	p.E497V	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			13	1748	+			497			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1490A>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272053	0.80469	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.35789	1.29;1.29	5.45	5.45	0.79879	Peptidase C14, caspase catalytic (1);	0.043168	0.85682	D	0.000000	T	0.45716	0.1356	N	0.21508	0.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.43081	-0.9413	10	0.45353	T	0.12	.	14.4982	0.67704	1.0:0.0:0.0:0.0	.	486;497	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	V	497;486	ENSP00000319279:E497V;ENSP00000304161:E486V	ENSP00000304161:E486V	E	+	2	0	MALT1	54553428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.681000	0.91228	2.069000	0.61940	0.477000	0.44152	GAA		0.323	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2				23	33	0	0	0	0.002299	0	23	33		
ZNF236	7776	broad.mit.edu	37	18	74593443	74593443	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr18:74593443A>G	ENST00000253159.8	+	9	1584	c.1386A>G	c.(1384-1386)atA>atG	p.I462M	ZNF236_ENST00000320610.9_Missense_Mutation_p.I464M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	462					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I462M(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAAAAATGATAAAGAAGAAGT	0.383																																						uc002lmi.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)	4						c.(1384-1386)ATA>ATG		zinc finger protein 236							39.0	42.0	41.0					18																	74593443		1814	4074	5888	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74593443A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1386A>G	18.37:g.74593443A>G	ENSP00000253159:p.Ile462Met					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.I462M	p.I462M	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	9	1584	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	462					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1386A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586022	0.28268	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10960	2.82;2.99	4.8	-4.99	0.03010	.	0.122065	0.53938	N	0.000059	T	0.07188	0.0182	M	0.62723	1.935	0.31232	N	0.696249	B	0.13145	0.007	B	0.09377	0.004	T	0.15464	-1.0436	10	0.34782	T	0.22	.	0.6735	0.00862	0.2533:0.3071:0.219:0.2207	.	462	Q9UL36	ZN236_HUMAN	M	462	ENSP00000253159:I462M;ENSP00000444524:I462M	ENSP00000253159:I462M	I	+	3	3	ZNF236	72722431	0.096000	0.21769	0.878000	0.34440	0.986000	0.74619	-0.584000	0.05800	-0.651000	0.05415	0.455000	0.32223	ATA		0.383	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				20	16	0	0	0	0.008871	0	20	16		
CHAF1A	10036	broad.mit.edu	37	19	4409533	4409533	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4409533T>G	ENST00000301280.5	+	3	838	c.737T>G	c.(736-738)tTg>tGg	p.L246W		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	246	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.L246W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACATCTTGGCTGTGAGA	0.562								Chromatin Structure																														uc002mal.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(736-738)TTG>TGG	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							119.0	117.0	118.0					19																	4409533		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409533T>G	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.737T>G	19.37:g.4409533T>G	ENSP00000301280:p.Leu246Trp						p.L246W	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	837	+		Hepatocellular(1079;0.137)	246			PxVxL motif.|Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.737T>G	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.136445	0.56936	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.22539	1.95	5.6	5.6	0.85130	.	.	.	.	.	T	0.43831	0.1265	M	0.61703	1.905	0.39968	D	0.974757	D	0.89917	1.0	D	0.87578	0.998	T	0.44620	-0.9316	9	0.87932	D	0	-25.4418	13.5106	0.61511	0.0:0.0:0.0:1.0	.	246	Q13111	CAF1A_HUMAN	W	246	ENSP00000301280:L246W	ENSP00000301280:L246W	L	+	2	0	CHAF1A	4360533	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	5.096000	0.64535	2.116000	0.64780	0.459000	0.35465	TTG		0.562	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483		7	32	0	0	0	0.00308	0	7	32		
FEM1A	55527	broad.mit.edu	37	19	4793524	4793524	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:4793524A>G	ENST00000269856.3	+	1	1797	c.1658A>G	c.(1657-1659)tAt>tGt	p.Y553C	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	553					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.Y553C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGGCCGCTATCCCGTGGGC	0.632																																						uc002mbf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1657-1659)TAT>TGT		fem-1 homolog a							64.0	63.0	64.0					19																	4793524		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793524A>G	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1658A>G	19.37:g.4793524A>G	ENSP00000269856:p.Tyr553Cys					uc002mbg.1_RNA	p.Y553C	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1797	+		Hepatocellular(1079;0.137)	553			ANK 8.		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1658A>G	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649317	0.67358	.	.	ENSG00000141965	ENST00000269856	T	0.69175	-0.38	5.02	5.02	0.67125	Ankyrin repeat-containing domain (3);	0.000000	0.64402	U	0.000002	T	0.74261	0.3693	M	0.62088	1.915	0.80722	D	1	P	0.47350	0.894	P	0.53266	0.722	T	0.77059	-0.2728	10	0.59425	D	0.04	-16.8411	14.7391	0.69440	1.0:0.0:0.0:0.0	.	553	Q9BSK4	FEM1A_HUMAN	C	553	ENSP00000269856:Y553C	ENSP00000269856:Y553C	Y	+	2	0	FEM1A	4744524	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.119000	0.94362	1.874000	0.54306	0.459000	0.35465	TAT		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1				16	28	0	0	0	0.004007	0	16	28		
ACTL9	284382	broad.mit.edu	37	19	8808755	8808755	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:8808755G>C	ENST00000324436.3	-	1	417	c.297C>G	c.(295-297)ggC>ggG	p.G99G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	99						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G99G(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCTGCCTCGCCGATGAACG	0.706																																						uc002mkl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|pancreas(1)	3						c.(295-297)GGC>GGG		actin-like 9							18.0	21.0	20.0					19																	8808755		2201	4298	6499	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808755G>C		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.297C>G	19.37:g.8808755G>C							p.G99G	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	418	-			99					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.297C>G	CCDS12207.1																																																																																				0.706	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1		NM_178525		3	18	0	0	0	0.004672	0	3	18		
KRI1	65095	broad.mit.edu	37	19	10671688	10671688	+	Silent	SNP	C	C	T	rs140755508		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:10671688C>T	ENST00000312962.6	-	8	691	c.672G>A	c.(670-672)ctG>ctA	p.L224L	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.L220L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	218	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.L224L(1)		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)			CCAGTTCCTTCAGGGAATCTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19354	0.0		0.0	False		,,,				2504	0.0					uc002moy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(670-672)CTG>CTA		KRI1 homolog		C		2,4404	4.2+/-10.8	0,2,2201	110.0	83.0	92.0		672	4.6	0.6	19	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	KRI1	NM_023008.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		224/710	10671688	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10671688C>T		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.672G>A	19.37:g.10671688C>T						KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.L220L	p.L224L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		8	681	-			224			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.672G>A	CCDS12242.1																																																																																				0.547	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		21	42	0	0	0	0.002299	0	21	42		
PDE4C	5143	broad.mit.edu	37	19	18330071	18330071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:18330071C>G	ENST00000355502.3	-	12	1810	c.939G>C	c.(937-939)caG>caC	p.Q313H	PDE4C_ENST00000539010.1_Missense_Mutation_p.Q82H|PDE4C_ENST00000598111.2_Missense_Mutation_p.Q83H|PDE4C_ENST00000597297.1_Missense_Mutation_p.Q83H|PDE4C_ENST00000594617.3_Missense_Mutation_p.Q313H|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.Q207H|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q281H|PDE4C_ENST00000594465.3_Missense_Mutation_p.Q313H			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	313					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.Q313H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCTGGTCAGTCTGGACCCCAA	0.622																																						uc010xqc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(937-939)CAG>CAC		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						67.0	60.0	62.0					19																	18330071		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18330071C>G		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.939G>C	19.37:g.18330071C>G	ENSP00000347689:p.Gln313His					PDE4C_uc002nik.3_Missense_Mutation_p.Q313H|PDE4C_uc002nil.3_Missense_Mutation_p.Q313H|PDE4C_uc002nif.3_Missense_Mutation_p.Q82H|PDE4C_uc002nig.3_Missense_Mutation_p.Q83H|PDE4C_uc002nih.3_Missense_Mutation_p.Q83H|PDE4C_uc010ebk.2_Missense_Mutation_p.Q207H|PDE4C_uc002nii.3_Missense_Mutation_p.Q281H|PDE4C_uc010ebl.2_Missense_Mutation_p.Q27H|PDE4C_uc010xqd.1_Missense_Mutation_p.Q82H	p.Q313H	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			8	1419	-			313					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.939G>C	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842264	0.51057	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.75	2.5	0.30297	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.252585	0.38381	N	0.001710	T	0.67163	0.2864	L	0.36672	1.1	0.32175	N	0.581189	D;P;P;P	0.54047	0.964;0.903;0.726;0.904	P;P;P;P	0.52217	0.547;0.693;0.497;0.615	T	0.72327	-0.4327	10	0.72032	D	0.01	.	9.1825	0.37149	0.1654:0.6748:0.1597:0.0	.	313;281;119;83	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	H	392;313;301;281;207;119;82;82;422	ENSP00000347689:Q313H;ENSP00000262805:Q281H;ENSP00000402091:Q207H;ENSP00000439470:Q82H	ENSP00000262805:Q281H	Q	-	3	2	PDE4C	18191071	0.996000	0.38824	0.996000	0.52242	0.629000	0.37895	0.333000	0.19768	0.379000	0.24794	0.313000	0.20887	CAG		0.622	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1				3	56	0	0	0	0.004672	0	3	56		
RYR1	6261	broad.mit.edu	37	19	39063871	39063871	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:39063871G>C	ENST00000359596.3	+	96	14053	c.14053G>C	c.(14053-14055)Gat>Cat	p.D4685H	RYR1_ENST00000360985.3_Missense_Mutation_p.D4680H|RYR1_ENST00000355481.4_Missense_Mutation_p.D4680H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4685					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D4685H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGAGTTTGATGGCCTGTA	0.617																																						uc002oit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14053-14055)GAT>CAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						109.0	93.0	98.0					19																	39063871		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063871G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14053G>C	19.37:g.39063871G>C	ENSP00000352608:p.Asp4685His					RYR1_uc002oiu.2_Missense_Mutation_p.D4680H	p.D4685H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		96	14183	+	all_cancers(60;7.91e-06)		4685					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14053G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189979	0.38707	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98120	-4.73;-4.73;-4.72	4.52	4.52	0.55395	.	0.000000	0.64402	U	0.000002	D	0.98632	0.9542	M	0.79805	2.47	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99799	1.1035	10	0.87932	D	0	.	17.0169	0.86422	0.0:0.0:1.0:0.0	.	4680;4685	P21817-2;P21817	.;RYR1_HUMAN	H	4685;4680;4680	ENSP00000352608:D4685H;ENSP00000347667:D4680H;ENSP00000354254:D4680H	ENSP00000347667:D4680H	D	+	1	0	RYR1	43755711	1.000000	0.71417	0.828000	0.32881	0.616000	0.37450	6.386000	0.73186	2.356000	0.79943	0.462000	0.41574	GAT		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				5	92	0	0	0	0.000602	0	5	92		
EID2	163126	broad.mit.edu	37	19	40030087	40030087	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40030087C>T	ENST00000390658.2	-	1	783	c.633G>A	c.(631-633)acG>acA	p.T211T		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2									p.T211T(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCAGAGCTATCGTAAAGGTTA	0.448																																						uc002oma.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(631-633)ACG>ACA		CREBBP/EP300 inhibitor 2							111.0	108.0	109.0					19																	40030087		1953	4159	6112	SO:0001819	synonymous_variant	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030087C>T	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.633G>A	19.37:g.40030087C>T							p.T211T	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	752	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		211						Silent	SNP	ENST00000390658.2	37	c.633G>A	CCDS12540.2																																																																																				0.448	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1		NM_153232		6	230	0	0	0	0.001168	0	6	230		
LGALS13	29124	broad.mit.edu	37	19	40095312	40095312	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40095312C>G	ENST00000221797.4	+	2	131	c.86C>G	c.(85-87)tCt>tGt	p.S29C		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	29	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.S29C(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CCAATCCACTCTTTTATGTGA	0.453																																						uc002omb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(85-87)TCT>TGT		galectin-13							165.0	145.0	152.0					19																	40095312		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095312C>G	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.86C>G	19.37:g.40095312C>G	ENSP00000221797:p.Ser29Cys						p.S29C	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	126	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		29			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.86C>G	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	2.898	-0.228109	0.06022	.	.	ENSG00000105198	ENST00000221797	T	0.18810	2.19	0.817	0.817	0.18773	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.13114	0.0318	L	0.27975	0.815	0.09310	N	1	B	0.20368	0.044	B	0.21917	0.037	T	0.27123	-1.0083	9	0.42905	T	0.14	.	4.9365	0.13943	0.0:1.0:0.0:0.0	.	29	Q9UHV8	PP13_HUMAN	C	29	ENSP00000221797:S29C	ENSP00000221797:S29C	S	+	2	0	LGALS13	44787152	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.203000	0.09438	0.710000	0.31997	0.313000	0.20887	TCT		0.453	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1		NM_013268		106	140	0	0	0	0.00361	0	106	140		
ZNF780A	284323	broad.mit.edu	37	19	40582009	40582009	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40582009C>G	ENST00000595687.2	-	6	549	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	ZNF780A_ENST00000340963.5_Missense_Mutation_p.E114Q|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E115Q|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.E80Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E115Q	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	114					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)	p.E115Q(1)|p.E80Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAAGGCCTCAATGCCAAGA	0.328																																						uc002omy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(340-342)GAG>CAG		zinc finger protein 780A isoform b							118.0	110.0	113.0					19																	40582009		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40582009C>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.340G>C	19.37:g.40582009C>G	ENSP00000472189:p.Glu114Gln					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E114Q|ZNF780A_uc010xvh.1_Missense_Mutation_p.E115Q	p.E114Q	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	565	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		114					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.340G>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284374	0.05605	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.05996	3.36;3.38	1.61	-3.21	0.05140	.	.	.	.	.	T	0.03305	0.0096	L	0.35854	1.095	0.09310	N	1	P;B	0.39480	0.675;0.421	B;B	0.31686	0.134;0.059	T	0.38993	-0.9635	9	0.25751	T	0.34	.	2.3432	0.04265	0.3496:0.3054:0.0:0.345	.	115;114	E9PB48;O75290	.;Z780A_HUMAN	Q	114;115;114	ENSP00000400997:E115Q;ENSP00000341507:E114Q	ENSP00000341507:E114Q	E	-	1	0	ZNF780A	45273849	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-1.863000	0.01651	-0.524000	0.06400	0.305000	0.20034	GAG		0.328	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		NM_001010880		11	245	0	0	0	0.000978	0	11	245		
C19orf47	126526	broad.mit.edu	37	19	40842021	40842021	+	Missense_Mutation	SNP	C	C	G	rs369171913		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40842021C>G	ENST00000582783.1	-	4	341	c.329G>C	c.(328-330)cGt>cCt	p.R110P	Y_RNA_ENST00000384551.1_RNA|C19orf47_ENST00000392035.2_Missense_Mutation_p.R43P	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	110						nucleus (GO:0005634)		p.R43P(1)|p.R110P(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCCACCTGACGGTGCACCAC	0.587																																						uc002oni.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(328-330)CGT>CCT		hypothetical protein LOC126526							105.0	81.0	89.0					19																	40842021		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40842021C>G	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.329G>C	19.37:g.40842021C>G	ENSP00000463159:p.Arg110Pro					C19orf47_uc002ong.2_5'UTR|C19orf47_uc002onh.2_Missense_Mutation_p.R43P	p.R110P	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		4	330	-			110					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.329G>C	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583886	0.46110	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.74881	2.28	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.78445	-0.2201	9	0.46703	T	0.11	1.8116	18.3664	0.90392	0.0:1.0:0.0:0.0	.	110	Q8N9M1	CS047_HUMAN	P	110;43	.	ENSP00000350556:R110P	R	-	2	0	C19orf47	45533861	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.499000	0.66937	2.625000	0.88918	0.561000	0.74099	CGT		0.587	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1		NM_178830		3	89	0	0	0	0.004672	0	3	89		
HIPK4	147746	broad.mit.edu	37	19	40886914	40886914	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:40886914C>T	ENST00000291823.2	-	3	1268	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L328L(1)|p.L253L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACTCCCAGGTCAGCATGCGCT	0.647																																						uc002onp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|stomach(1)	2						c.(982-984)CTG>CTA		homeodomain interacting protein kinase 4							67.0	61.0	63.0					19																	40886914		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886914C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.984G>A	19.37:g.40886914C>T							p.L328L	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1269	-			328			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.984G>A	CCDS12555.1																																																																																				0.647	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1		NM_144685		4	109	0	0	0	0.009096	0	4	109		
ZNF233	353355	broad.mit.edu	37	19	44778142	44778142	+	Silent	SNP	G	G	A	rs201847109		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:44778142G>A	ENST00000391958.2	+	5	1456	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.Q425Q|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q443Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTCTTCACCAGAGAGTTCACA	0.428																																						uc002oyz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(1327-1329)CAG>CAA		zinc finger protein 233							78.0	84.0	82.0					19																	44778142		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778142G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1329G>A	19.37:g.44778142G>A						ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.Q258Q	p.Q443Q	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1456	+		Prostate(69;0.0435)|all_neural(266;0.226)	443					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1329G>A	CCDS33047.1																																																																																				0.428	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756		36	89	0	0	0	0.004878	0	36	89		
EML2	24139	broad.mit.edu	37	19	46117878	46117878	+	Missense_Mutation	SNP	C	C	G	rs35344004		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:46117878C>G	ENST00000245925.3	-	17	1728	c.1678G>C	c.(1678-1680)Ggg>Cgg	p.G560R	EML2_ENST00000536630.1_Missense_Mutation_p.G707R|EML2_ENST00000587152.1_Missense_Mutation_p.G761R|EML2_ENST00000589876.1_Missense_Mutation_p.G560R	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	560	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G560R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCCCAAACCCTAGGACACAA	0.542																																						uc002pcn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1678-1680)GGG>CGG		echinoderm microtubule associated protein like							280.0	234.0	250.0					19																	46117878		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46117878C>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1678G>C	19.37:g.46117878C>G	ENSP00000245925:p.Gly560Arg					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.G444R|EML2_uc010xxl.1_Missense_Mutation_p.G707R|EML2_uc010xxm.1_Missense_Mutation_p.G761R	p.G560R	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	17	1713	-		Ovarian(192;0.179)|all_neural(266;0.224)	560					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1678G>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999590	0.74818	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.37915	1.17;1.28	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.048286	0.85682	D	0.000000	T	0.67192	0.2867	M	0.91038	3.17	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.991	D;D;D	0.68192	0.951;0.956;0.917	T	0.75207	-0.3399	10	0.87932	D	0	-27.7232	16.1053	0.81216	0.0:1.0:0.0:0.0	.	726;707;560	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	R	707;560;718	ENSP00000442365:G707R;ENSP00000245925:G560R	ENSP00000245925:G560R	G	-	1	0	EML2	50809718	1.000000	0.71417	0.908000	0.35775	0.946000	0.59487	4.445000	0.60007	2.679000	0.91253	0.655000	0.94253	GGG		0.542	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1		NM_012155		42	155	0	0	0	0.002522	0	42	155		
HRC	3270	broad.mit.edu	37	19	49657670	49657670	+	Silent	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49657670G>T	ENST00000252825.4	-	1	1011	c.825C>A	c.(823-825)ggC>ggA	p.G275G	HRC_ENST00000595625.1_Silent_p.G275G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	275	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.G275G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CAATCCCGTGGCCTTGGTGCC	0.473																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(823-825)GGC>GGA		histidine rich calcium binding protein							196.0	148.0	164.0					19																	49657670		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657670G>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.825C>A	19.37:g.49657670G>T							p.G275G	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1012	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	275			2-5.|6 X approximate tandem repeats.|4 X tandem repeats, acidic.		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.825C>A	CCDS12759.1																																																																																				0.473	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		27	44	1	0	6.12954e-19	0.004656	6.79614e-19	27	44		
TRPM4	54795	broad.mit.edu	37	19	49692258	49692258	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:49692258C>G	ENST00000252826.5	+	14	2055	c.1929C>G	c.(1927-1929)ctC>ctG	p.L643L	TRPM4_ENST00000427978.2_Silent_p.L643L|TRPM4_ENST00000355712.5_Silent_p.L289L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	643					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.L643L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTCCTCCTCCGTCGCTGCC	0.617																																						uc002pmw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1927-1929)CTC>CTG		transient receptor potential cation channel,							81.0	88.0	86.0					19																	49692258		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692258C>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1929C>G	19.37:g.49692258C>G						TRPM4_uc010emu.2_Silent_p.L643L|TRPM4_uc010yak.1_Silent_p.L107L|TRPM4_uc002pmx.2_Silent_p.L469L|TRPM4_uc010emv.2_Silent_p.L528L|TRPM4_uc010yal.1_Silent_p.L289L|TRPM4_uc002pmy.2_5'UTR	p.L643L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	2001	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	643			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1929C>G	CCDS33073.1																																																																																				0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2		NM_017636		43	83	0	0	0	0.00361	0	43	83		
ZNF616	90317	broad.mit.edu	37	19	52620235	52620235	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:52620235T>C	ENST00000600228.1	-	4	443	c.182A>G	c.(181-183)gAg>gGg	p.E61G	ZNF616_ENST00000330123.5_3'UTR|ZNF616_ENST00000596290.1_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E61G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTACTGTTCTCTGTTGGTGG	0.323																																						uc002pym.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(181-183)GAG>GGG		zinc finger protein 616							100.0	99.0	100.0					19																	52620235		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52620235T>C	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.182A>G	19.37:g.52620235T>C	ENSP00000471000:p.Glu61Gly					ZNF616_uc002pyn.2_RNA	p.E61G	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	465	-			61			KRAB.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.182A>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	7.759	0.705046	0.15172	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	-1.51	0.08664	Krueppel-associated box (3);	.	.	.	.	T	0.23492	0.0568	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	8	0.20046	T	0.44	.	2.0722	0.03616	0.2794:0.0:0.3299:0.3907	.	61	Q08AN1	ZN616_HUMAN	G	61	.	ENSP00000328722:E61G	E	-	2	0	ZNF616	57312047	0.000000	0.05858	0.000000	0.03702	0.827000	0.46813	0.044000	0.13992	-0.065000	0.13021	0.254000	0.18369	GAG		0.323	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1		XM_030892		14	232	0	0	0	0.003163	0	14	232		
ZNF816	125893	broad.mit.edu	37	19	53454831	53454831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:53454831G>C	ENST00000357666.4	-	5	497	c.197C>G	c.(196-198)tCt>tGt	p.S66C	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.S66C|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S66C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGATTTTAAAGAGCTATCTAA	0.333																																						uc002qal.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)TCT>TGT		zinc finger protein 816A							51.0	54.0	53.0					19																	53454831		2201	4298	6499	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454831G>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.197C>G	19.37:g.53454831G>C	ENSP00000350295:p.Ser66Cys					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.S50C	p.S66C	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	498	-			66			KRAB.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.197C>G	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	9.601	1.128726	0.21041	.	.	ENSG00000180257	ENST00000357666;ENST00000444460;ENST00000457013	T;T;T	0.06687	3.27;3.27;4.89	1.21	-1.29	0.09288	Krueppel-associated box (3);	.	.	.	.	T	0.10981	0.0268	N	0.21373	0.66	0.35901	D	0.830388	D	0.76494	0.999	D	0.80764	0.994	T	0.42666	-0.9438	9	0.25106	T	0.35	.	5.616	0.17432	0.3619:0.0:0.6381:0.0	.	66	Q0VGE8	ZN816_HUMAN	C	66	ENSP00000350295:S66C;ENSP00000403266:S66C;ENSP00000408965:S66C	ENSP00000350295:S66C	S	-	2	0	ZNF816	58146643	0.012000	0.17670	0.001000	0.08648	0.041000	0.13682	0.457000	0.21875	-0.338000	0.08413	-1.215000	0.01618	TCT		0.333	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665		41	86	0	0	0	0.006999	0	41	86		
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A	rs201892026		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	LILRA5_ENST00000432233.3_Splice_Site_p.L29L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|LILRA5_ENST00000346508.3_Splice_Site_p.L29L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602																																						uc002qfe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(85-87)CTC>CTT		leukocyte immunoglobulin-like receptor subfamily							53.0	44.0	47.0					19																	54823808		2203	4300	6503	SO:0001630	splice_region_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823808G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.88+1C>T	19.37:g.54823808G>A						LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L	p.L29L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	207	-	Ovarian(34;0.19)		29					A6NHI3	Silent	SNP	ENST00000301219.3	37	c.87C>T	CCDS12888.1																																																																																				0.602	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1		NM_181985	Silent	24	19	0	0	0	0.00333	0	24	19		
NLRP7	199713	broad.mit.edu	37	19	55451137	55451137	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr19:55451137C>T	ENST00000590030.1	-	3	1090	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	NLRP7_ENST00000328092.5_Missense_Mutation_p.M350I|NLRP7_ENST00000592784.1_Missense_Mutation_p.M350I|NLRP7_ENST00000446217.1_Missense_Mutation_p.M378I|NLRP7_ENST00000340844.2_Missense_Mutation_p.M350I|NLRP7_ENST00000588756.1_Missense_Mutation_p.M350I|NLRP7_ENST00000448121.2_Missense_Mutation_p.M350I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	350	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.M350I(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGTTGCTCCTCATTAGCTCAA	0.612																																						uc002qih.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1048-1050)ATG>ATA		NACHT, leucine rich repeat and PYD containing 7							30.0	33.0	32.0					19																	55451137		2203	4296	6499	SO:0001583	missense	199713						ATP binding	g.chr19:55451137C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1050G>A	19.37:g.55451137C>T	ENSP00000465520:p.Met350Ile					NLRP7_uc002qig.3_Missense_Mutation_p.M350I|NLRP7_uc002qii.3_Missense_Mutation_p.M350I|NLRP7_uc010esk.2_Missense_Mutation_p.M350I|NLRP7_uc010esl.2_Missense_Mutation_p.M378I	p.M350I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1126	-			350			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1050G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888937	0.33348	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.69435	-0.35;-0.35;-0.4;-0.37	1.89	0.794	0.18638	NACHT nucleoside triphosphatase (1);	1.007540	0.07999	N	0.988484	T	0.50718	0.1632	N	0.17474	0.49	0.09310	N	1	P;P;P;P	0.47350	0.894;0.822;0.894;0.858	P;P;P;P	0.45856	0.495;0.495;0.495;0.491	T	0.37126	-0.9719	10	0.14252	T	0.57	.	8.1715	0.31258	0.0:0.749:0.251:0.0	.	378;350;350;350	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	I	350;350;350;378;117	ENSP00000329568:M350I;ENSP00000409137:M350I;ENSP00000339491:M350I;ENSP00000414273:M378I	ENSP00000329568:M350I	M	-	3	0	NLRP7	60142949	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.467000	0.06664	0.332000	0.23536	0.462000	0.41574	ATG		0.612	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		4	48	0	0	0	0.009096	0	4	48		
TPO	7173	broad.mit.edu	37	2	1480894	1480894	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:1480894T>A	ENST00000345913.4	+	8	947	c.856T>A	c.(856-858)Tgt>Agt	p.C286S	TPO_ENST00000329066.4_Missense_Mutation_p.C286S|TPO_ENST00000349624.3_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.C286S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.C286S|TPO_ENST00000346956.3_Missense_Mutation_p.C286S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	286					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.C286S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGCACCGCCTGTCTGCCCTT	0.692																																						uc002qww.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(856-858)TGT>AGT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						10.0	13.0	12.0					2																	1480894		2181	4239	6420	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480894T>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.856T>A	2.37:g.1480894T>A	ENSP00000318820:p.Cys286Ser					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.C286S|TPO_uc002qwr.2_Missense_Mutation_p.C286S|TPO_uc002qwx.2_Missense_Mutation_p.C286S|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.C286S	p.C286S	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	947	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	286			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.856T>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390679	0.62066	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;0.969;0.975	D;P;P	0.91635	0.999;0.821;0.822	D	0.91741	0.5404	10	0.87932	D	0	-17.3202	14.6928	0.69098	0.0:0.0:0.0:1.0	.	286;286;286	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	S	286;286;286;286;286;215	ENSP00000337263:C286S;ENSP00000318820:C286S;ENSP00000263886:C286S;ENSP00000329869:C286S;ENSP00000371636:C286S;ENSP00000405788:C215S	ENSP00000329869:C286S	C	+	1	0	TPO	1459901	1.000000	0.71417	0.148000	0.22405	0.042000	0.13812	7.689000	0.84165	1.877000	0.54381	0.377000	0.23210	TGT		0.692	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		4	7	0	0	0	0.001984	0	4	7		
LPIN1	23175	broad.mit.edu	37	2	11944642	11944642	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:11944642C>G	ENST00000256720.2	+	15	2092	c.1999C>G	c.(1999-2001)Ctg>Gtg	p.L667V	LPIN1_ENST00000396097.1_Missense_Mutation_p.L397V|LPIN1_ENST00000404113.2_Missense_Mutation_p.L168V|LPIN1_ENST00000425416.2_Missense_Mutation_p.L673V|LPIN1_ENST00000396099.1_Missense_Mutation_p.L709V|LPIN1_ENST00000449576.2_Missense_Mutation_p.L752V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	667	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.L667V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CACCATCTATCTGTGGAACTG	0.478																																						uc010yjn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1999-2001)CTG>GTG		lipin 1							120.0	106.0	111.0					2																	11944642		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11944642C>G	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1999C>G	2.37:g.11944642C>G	ENSP00000256720:p.Leu667Val					LPIN1_uc010yjm.1_Missense_Mutation_p.L752V|LPIN1_uc002rbt.2_Missense_Mutation_p.L667V|LPIN1_uc010yjo.1_Missense_Mutation_p.L168V	p.L667V	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	16	2273	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		667			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1999C>G	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274770	0.59649	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.79554	-1.12;-1.12;-1.12;-1.12;-1.12;-0.13;-1.28	4.75	-1.27	0.09347	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	M	0.75264	2.295	0.58432	D	0.999996	D;D;P	0.89917	1.0;1.0;0.691	D;D;P	0.91635	0.999;0.999;0.766	D	0.84869	0.0824	10	0.72032	D	0.01	-20.8982	11.202	0.48747	0.0:0.6048:0.0:0.3952	.	168;752;667	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	V	752;709;673;667;397;168;194	ENSP00000397908:L752V;ENSP00000379406:L709V;ENSP00000401522:L673V;ENSP00000256720:L667V;ENSP00000379404:L397V;ENSP00000386120:L168V;ENSP00000413714:L194V	ENSP00000256720:L667V	L	+	1	2	LPIN1	11862093	0.007000	0.16637	0.484000	0.27391	0.969000	0.65631	0.085000	0.14912	-0.345000	0.08325	-0.140000	0.14226	CTG		0.478	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693		11	103	0	0	0	0.000978	0	11	103		
NCOA1	8648	broad.mit.edu	37	2	24929441	24929441	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:24929441C>T	ENST00000406961.1	+	13	1754	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	NCOA1_ENST00000288599.5_Missense_Mutation_p.H368Y|NCOA1_ENST00000538539.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000348332.3_Missense_Mutation_p.H368Y|NCOA1_ENST00000407230.1_Missense_Mutation_p.H217Y|NCOA1_ENST00000405141.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000395856.3_Missense_Mutation_p.H368Y			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	368	Interaction with STAT3.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.H368Y(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTAGGGAGCACAGTGGGCT	0.378			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		urinary_tract(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1102-1104)CAC>TAC		nuclear receptor coactivator 1 isoform 1							61.0	62.0	62.0					2																	24929441		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929441C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1102C>T	2.37:g.24929441C>T	ENSP00000385216:p.His368Tyr					NCOA1_uc010eye.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfi.2_Missense_Mutation_p.H217Y|NCOA1_uc002rfj.2_Missense_Mutation_p.H368Y|NCOA1_uc002rfl.2_Missense_Mutation_p.H368Y	p.H368Y	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1360	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		368			Interaction with STAT3.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1102C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385023	0.61956	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.02	5.02	0.67125	.	0.193868	0.56097	D	0.000040	T	0.28067	0.0692	L	0.34521	1.04	0.58432	D	0.99999	D;B;P;P	0.58620	0.983;0.076;0.956;0.937	P;B;P;P	0.57324	0.67;0.054;0.732;0.818	T	0.01192	-1.1423	10	0.49607	T	0.09	.	18.3304	0.90267	0.0:1.0:0.0:0.0	.	368;368;368;217	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	Y	368;368;217;368;368;368;368	ENSP00000385216:H368Y;ENSP00000385097:H368Y;ENSP00000385195:H217Y;ENSP00000444039:H368Y;ENSP00000320940:H368Y;ENSP00000288599:H368Y;ENSP00000379197:H368Y	ENSP00000288599:H368Y	H	+	1	0	NCOA1	24782945	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.800000	0.69108	2.485000	0.83878	0.655000	0.94253	CAC		0.378	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		4	63	0	0	0	0.001168	0	4	63		
KCNK3	3777	broad.mit.edu	37	2	26950989	26950989	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:26950989C>T	ENST00000302909.3	+	2	863	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	246					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.F246F(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	TGCTGCGCTTCATGACCATGA	0.697																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(736-738)TTC>TTT		potassium channel, subfamily K, member 3							62.0	46.0	51.0					2																	26950989		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950989C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.738C>T	2.37:g.26950989C>T							p.F246F	NM_002246	NP_002237	O14649	KCNK3_HUMAN			2	901	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		246			Cytoplasmic (Potential).		Q53SU2	Silent	SNP	ENST00000302909.3	37	c.738C>T	CCDS1727.1																																																																																				0.697	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2		NM_002246		6	4	0	0	0	0.001984	0	6	4		
CLHC1	130162	broad.mit.edu	37	2	55407837	55407837	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:55407837G>C	ENST00000401408.1	-	11	1538	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C	CLHC1_ENST00000407122.1_Missense_Mutation_p.S398C|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.S276C|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	398								p.S398C(2)									AGCCTCCTCAGAAAATGTCAG	0.418																																						uc002ryi.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(1192-1194)TCT>TGT		hypothetical protein LOC130162 isoform 1							69.0	68.0	68.0					2																	55407837		2203	4300	6503	SO:0001583	missense	130162						binding	g.chr2:55407837G>C		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1193C>G	2.37:g.55407837G>C	ENSP00000384869:p.Ser398Cys					C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.S276C	p.S398C	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		11	1539	-			398					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.1193C>G	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351879	0.61183	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.55930	0.49;0.49;0.49	5.98	4.12	0.48240	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.226253	0.36482	N	0.002563	T	0.71099	0.3300	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72507	-0.4272	10	0.51188	T	0.08	-7.9002	14.0785	0.64905	0.0:0.2876:0.7124:0.0	.	398	Q8NHS4	CB063_HUMAN	C	398;398;276	ENSP00000385778:S398C;ENSP00000384869:S398C;ENSP00000385512:S276C	ENSP00000384869:S398C	S	-	2	0	C2orf63	55261341	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.759000	0.38420	0.798000	0.33994	-0.282000	0.10007	TCT		0.418	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4		NM_152385		15	73	0	0	0	0.006122	0	15	73		
CCDC142	84865	broad.mit.edu	37	2	74709901	74709901	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:74709901G>C	ENST00000393965.3	-	1	460	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	CCDC142_ENST00000290418.4_Missense_Mutation_p.Q22E|CCDC142_ENST00000471713.1_Intron|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	22								p.Q22E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCCCGGGTTGCGCCCTCAGC	0.672																																						uc002slr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(64-66)CAA>GAA		coiled-coil domain containing 142							38.0	44.0	42.0					2																	74709901		2175	4258	6433	SO:0001583	missense	84865							g.chr2:74709901G>C	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.64C>G	2.37:g.74709901G>C	ENSP00000377537:p.Gln22Glu					TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.Q22E|CCDC142_uc002slp.2_Missense_Mutation_p.Q22E	p.Q22E	NM_032779	NP_116168	Q17RM4	CC142_HUMAN			1	457	-			22					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.64C>G		.	.	.	.	.	.	.	.	.	.	G	13.15	2.151819	0.38021	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.11277	2.79;2.79	4.3	4.3	0.51218	.	0.327153	0.22019	N	0.065754	T	0.08223	0.0205	L	0.34521	1.04	0.09310	N	1	B;B;B	0.31817	0.341;0.341;0.341	B;B;B	0.25291	0.059;0.059;0.059	T	0.25950	-1.0117	9	.	.	.	-0.8741	12.5734	0.56349	0.0:0.0:1.0:0.0	.	22;22;22	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	E	22	ENSP00000377537:Q22E;ENSP00000290418:Q22E	.	Q	-	1	0	CCDC142	74563409	0.485000	0.25972	0.208000	0.23602	0.003000	0.03518	2.020000	0.41010	2.676000	0.91093	0.655000	0.94253	CAA		0.672	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1		NM_032779		7	63	0	0	0	0.001984	0	7	63		
TRABD2A	129293	broad.mit.edu	37	2	85097589	85097589	+	Silent	SNP	G	G	A	rs370950603		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097589G>A	ENST00000409520.2	-	2	471	c.429C>T	c.(427-429)cgC>cgT	p.R143R	TRABD2A_ENST00000335459.5_Silent_p.R143R|TRABD2A_ENST00000409133.1_Silent_p.R143R	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	143			R -> H (in dbSNP:rs1863772). {ECO:0000269|PubMed:15489334}.		head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.R143R(2)									GCCCCTTGCCGCGCTGGTCTG	0.582																																						uc010ysl.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(427-429)CGC>CGT		hypothetical protein LOC129293 precursor		G		1,4309		0,1,2154	71.0	76.0	74.0		429	-6.2	0.1	2		74	0,8516		0,0,4258	no	coding-synonymous	C2orf89	NM_001080824.1		0,1,6412	AA,AG,GG		0.0,0.0232,0.0078		143/457	85097589	1,12825	2155	4258	6413	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85097589G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.429C>T	2.37:g.85097589G>A						C2orf89_uc002sou.3_Silent_p.R143R|C2orf89_uc010fgc.1_Silent_p.R143R	p.R143R	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			2	518	-			143			Extracellular (Potential).		B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.429C>T																																																																																					0.582	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824		27	49	0	0	0	0.005443	0	27	49		
TRABD2A	129293	broad.mit.edu	37	2	85097649	85097649	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:85097649G>A	ENST00000409520.2	-	2	411	c.369C>T	c.(367-369)ctC>ctT	p.L123L	TRABD2A_ENST00000335459.5_Silent_p.L123L|TRABD2A_ENST00000409133.1_Silent_p.L123L	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	123					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.L123L(2)									GGTGGCGCTTGAGGCGGCAGT	0.572																																						uc010ysl.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(367-369)CTC>CTT		hypothetical protein LOC129293 precursor							50.0	55.0	53.0					2																	85097649		2124	4232	6356	SO:0001819	synonymous_variant	129293					integral to membrane		g.chr2:85097649G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.369C>T	2.37:g.85097649G>A						C2orf89_uc002sou.3_Silent_p.L123L|C2orf89_uc010fgc.1_Silent_p.L123L	p.L123L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			2	458	-			123			Extracellular (Potential).		B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.369C>T																																																																																					0.572	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824		17	26	0	0	0	0.006122	0	17	26		
MRPL35	51318	broad.mit.edu	37	2	86437695	86437695	+	Silent	SNP	C	C	T	rs542358985		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:86437695C>T	ENST00000337109.4	+	4	505	c.471C>T	c.(469-471)ctC>ctT	p.L157L	MRPL35_ENST00000409180.1_Silent_p.L157L|MRPL35_ENST00000254644.8_Silent_p.L157L|MRPL35_ENST00000605125.1_3'UTR	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	157					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.L157L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGAGTAAACTCTTAGATAAAA	0.388																																						uc002srg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(469-471)CTC>CTT		mitochondrial ribosomal protein L35 isoform a							75.0	73.0	74.0					2																	86437695		2203	4300	6503	SO:0001819	synonymous_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86437695C>T	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.471C>T	2.37:g.86437695C>T						MRPL35_uc002srf.3_Silent_p.L157L	p.L157L	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN			4	529	+			157					A6NKV6|B2RB93|Q658U7|Q8WWA2	Silent	SNP	ENST00000337109.4	37	c.471C>T	CCDS1988.1																																																																																				0.388	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2		NM_016622		10	104	0	0	0	0.006214	0	10	104		
SLC9A2	6549	broad.mit.edu	37	2	103318920	103318920	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:103318920C>G	ENST00000233969.2	+	9	1946	c.1804C>G	c.(1804-1806)Cga>Gga	p.R602G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	602					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R602G(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGATGAAATTCGAGAACTCTT	0.328																																						uc002tca.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1804-1806)CGA>GGA		solute carrier family 9 (sodium/hydrogen							76.0	83.0	81.0					2																	103318920		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103318920C>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1804C>G	2.37:g.103318920C>G	ENSP00000233969:p.Arg602Gly						p.R602G	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			9	1946	+			602			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1804C>G	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643756	0.67244	.	.	ENSG00000115616	ENST00000233969	T	0.53423	0.62	5.73	3.77	0.43336	.	0.063724	0.64402	D	0.000004	T	0.57066	0.2028	M	0.69523	2.12	0.38712	D	0.953244	D	0.59767	0.986	P	0.51582	0.674	T	0.67252	-0.5717	10	0.62326	D	0.03	.	13.8975	0.63783	0.3965:0.6035:0.0:0.0	.	602	Q9UBY0	SL9A2_HUMAN	G	602	ENSP00000233969:R602G	ENSP00000233969:R602G	R	+	1	2	SLC9A2	102685352	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	0.985000	0.29578	1.368000	0.46115	0.591000	0.81541	CGA		0.328	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2				6	97	0	0	0	0.001168	0	6	97		
CHCHD5	84269	broad.mit.edu	37	2	113343831	113343831	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:113343831G>C	ENST00000324913.5	+	3	405	c.198G>C	c.(196-198)gaG>gaC	p.E66D	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000409719.1_Missense_Mutation_p.E66D|AC012442.5_ENST00000414784.1_RNA	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	66	CHCH.					mitochondrion (GO:0005739)		p.E66D(1)		NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						AGGCCTTCGAGGAGTGTCTTC	0.632																																						uc002thz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)GAG>GAC		coiled-coil-helix-coiled-coil-helix domain							63.0	61.0	62.0					2																	113343831		2203	4300	6503	SO:0001583	missense	84269							g.chr2:113343831G>C	BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.198G>C	2.37:g.113343831G>C	ENSP00000325655:p.Glu66Asp					CHCHD5_uc002tia.2_Missense_Mutation_p.E66D	p.E66D	NM_032309	NP_115685	Q9BSY4	CHCH5_HUMAN			3	387	+			66			CHCH.		Q585T4|Q8N8C4	Missense_Mutation	SNP	ENST00000324913.5	37	c.198G>C	CCDS2098.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005544	0.35415	.	.	ENSG00000125611	ENST00000324913;ENST00000409719	T;T	0.76578	-1.03;2.27	4.53	1.75	0.24633	CHCH (1);	0.084080	0.49305	D	0.000148	T	0.55862	0.1947	N	0.12746	0.255	0.39961	D	0.974666	B;B	0.25563	0.097;0.129	B;B	0.28011	0.085;0.075	T	0.40850	-0.9541	10	0.16420	T	0.52	-22.8035	8.1869	0.31343	0.2799:0.0:0.7201:0.0	.	66;66	Q8N8C4;Q9BSY4	.;CHCH5_HUMAN	D	66	ENSP00000325655:E66D;ENSP00000386994:E66D	ENSP00000325655:E66D	E	+	3	2	CHCHD5	113060302	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.933000	0.28897	0.656000	0.30886	0.655000	0.94253	GAG		0.632	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254081.2		NM_032309		3	42	0	0	0	0.004672	0	3	42		
LIMS2	55679	broad.mit.edu	37	2	128412051	128412051	+	Silent	SNP	G	G	A	rs375926340		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:128412051G>A	ENST00000355119.4	-	4	471	c.306C>T	c.(304-306)tgC>tgT	p.C102C	LIMS2_ENST00000410011.1_Silent_p.C97C|LIMS2_ENST00000324938.5_Silent_p.C126C|LIMS2_ENST00000409808.2_Silent_p.C97C|LIMS2_ENST00000545738.2_Silent_p.C124C|LIMS2_ENST00000409455.1_Silent_p.C97C	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	102	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.C126C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CACACAGCTCGCAGCGGAAGC	0.617																																						uc002tpa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(304-306)TGC>TGT		LIM and senescent cell antigen-like domains 2		G	,,,	1,4405		0,1,2202	141.0	134.0	136.0		372,306,291,378	-3.9	1.0	2		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_017980.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	124/364,102/342,97/337,126/366	128412051	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412051G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.306C>T	2.37:g.128412051G>A						LIMS2_uc002tox.2_Silent_p.C126C|LIMS2_uc010fmb.2_Silent_p.C12C|LIMS2_uc002toy.2_Silent_p.C97C|LIMS2_uc010yzm.1_Silent_p.C124C|LIMS2_uc002toz.2_Silent_p.C97C|LIMS2_uc002tpb.2_Silent_p.C97C	p.C102C	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	472	-	Colorectal(110;0.1)		102			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.306C>T	CCDS54395.1																																																																																				0.617	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2		NM_017980		33	73	0	0	0	0.002445	0	33	73		
LY75	4065	broad.mit.edu	37	2	160738705	160738705	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:160738705G>C	ENST00000263636.4	-	7	1203	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F392L|LY75_ENST00000553424.1_Missense_Mutation_p.F392L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F392L|LY75_ENST00000554112.1_Missense_Mutation_p.F392L	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	392	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F392L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGTCACTACTGAAGGCTTTGC	0.423																																						uc002ubc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1174-1176)TTC>TTG		lymphocyte antigen 75 precursor							148.0	143.0	145.0					2																	160738705		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160738705G>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1176C>G	2.37:g.160738705G>C	ENSP00000263636:p.Phe392Leu					LY75_uc002ubb.3_Missense_Mutation_p.F392L|LY75_uc010fos.2_Missense_Mutation_p.F392L|LY75_uc010fot.1_Missense_Mutation_p.F392L	p.F392L	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	7	1245	-			392			C-type lectin 2.|Extracellular (Potential).		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1176C>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479053	0.01035	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33	5.32	-3.25	0.05079	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.286390	0.05885	N	0.627121	T	0.02342	0.0072	N	0.04387	-0.21	0.09310	N	1	B;B;B;B	0.11235	0.0;0.0;0.004;0.0	B;B;B;B	0.10450	0.004;0.002;0.005;0.002	T	0.45234	-0.9275	10	0.19590	T	0.45	0.2818	1.0813	0.01643	0.1877:0.1851:0.231:0.3961	.	10;392;392;392	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	L	392	ENSP00000451511:F392L;ENSP00000451446:F392L;ENSP00000263636:F392L;ENSP00000423463:F392L;ENSP00000421035:F392L	ENSP00000423463:F392L	F	-	3	2	LY75;LY75-CD302	160446951	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.399000	0.07250	-0.491000	0.06697	-0.145000	0.13849	TTC		0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1				15	121	0	0	0	0.004007	0	15	121		
GAD1	2571	broad.mit.edu	37	2	171709254	171709254	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:171709254G>C	ENST00000358196.3	+	13	1765	c.1215G>C	c.(1213-1215)aaG>aaC	p.K405N		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	405					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.K405N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ACCCTCACAAGATGATGGGCG	0.507																																						uc002ugi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1213-1215)AAG>AAC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						175.0	136.0	149.0					2																	171709254		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171709254G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1215G>C	2.37:g.171709254G>C	ENSP00000350928:p.Lys405Asn					GAD1_uc010fqc.2_Missense_Mutation_p.K24N	p.K405N	NM_000817	NP_000808	Q99259	DCE1_HUMAN			13	1637	+			405					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1215G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383647	0.82792	.	.	ENSG00000128683	ENST00000358196	T	0.81247	-1.47	5.91	5.03	0.67393	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93609	0.6937	10	0.87932	D	0	-19.6889	14.5031	0.67734	0.0698:0.0:0.9302:0.0	.	405	Q99259	DCE1_HUMAN	N	405	ENSP00000350928:K405N	ENSP00000350928:K405N	K	+	3	2	GAD1	171417500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.546000	0.60705	2.802000	0.96397	0.655000	0.94253	AAG		0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2				5	28	0	0	0	0.000602	0	5	28		
SP3	6670	broad.mit.edu	37	2	174819648	174819648	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:174819648G>A	ENST00000310015.6	-	4	2122	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SP3_ENST00000418194.2_Missense_Mutation_p.S463F|SP3_ENST00000455789.2_Missense_Mutation_p.S478F|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	531					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.S531F(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TATACCAGCAGAATCTATAGA	0.433																																						uc002uig.2		NaN																EWSR1/SP3(3)	1	Substitution - Missense(1)		urinary_tract(1)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1591-1593)TCT>TTT		Sp3 transcription factor isoform 1							91.0	85.0	87.0					2																	174819648		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174819648G>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1592C>T	2.37:g.174819648G>A	ENSP00000310301:p.Ser531Phe					SP3_uc002uie.2_Missense_Mutation_p.S463F|SP3_uc002uif.2_Missense_Mutation_p.S478F|SP3_uc010zel.1_Missense_Mutation_p.S528F	p.S531F	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1756	-			531					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1592C>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810919	0.50421	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05447	3.45;3.44;3.44	5.74	5.74	0.90152	.	0.286197	0.40640	N	0.001055	T	0.10551	0.0258	L	0.43152	1.355	0.41880	D	0.990319	D;P;P	0.53151	0.958;0.457;0.517	B;B;B	0.43867	0.434;0.222;0.243	T	0.00989	-1.1489	10	0.87932	D	0	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	528;531;478	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	F	531;478;463	ENSP00000310301:S531F;ENSP00000388903:S478F;ENSP00000406140:S463F	ENSP00000310301:S531F	S	-	2	0	SP3	174527894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.718000	0.68455	2.706000	0.92434	0.650000	0.86243	TCT		0.433	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1		NM_003111		5	122	0	0	0	0.000602	0	5	122		
GPR155	151556	broad.mit.edu	37	2	175311382	175311382	+	Missense_Mutation	SNP	C	C	T	rs111563303		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:175311382C>T	ENST00000392552.2	-	12	2208	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	GPR155_ENST00000392551.2_Missense_Mutation_p.R657Q|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Missense_Mutation_p.R657Q	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	657					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R657Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAACACATGTCGGGTCAGTTG	0.423																																						uc002uit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1969-1971)CGA>CAA		G protein-coupled receptor 155 isoform 9		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	223.0	203.0	210.0		1970,1970	5.5	1.0	2	dbSNP_132	210	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	GPR155	NM_001033045.2,NM_152529.5	43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	657/871,657/871	175311382	3,13003	2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175311382C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1970G>A	2.37:g.175311382C>T	ENSP00000376335:p.Arg657Gln					GPR155_uc002uiu.2_Missense_Mutation_p.R657Q|GPR155_uc002uiv.2_Missense_Mutation_p.R657Q|GPR155_uc010fqs.2_Missense_Mutation_p.R629Q	p.R657Q	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			13	2361	-			657					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.1970G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554688	0.86231	0.0	3.49E-4	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.60040	0.22;0.22;0.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.73962	2.25	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.79420	-0.1811	10	0.72032	D	0.01	-8.7154	19.3512	0.94387	0.0:1.0:0.0:0.0	.	137;657	F5H464;Q7Z3F1	.;GP155_HUMAN	Q	657;137;657;657	ENSP00000376335:R657Q;ENSP00000376334:R657Q;ENSP00000295500:R657Q	ENSP00000295500:R657Q	R	-	2	0	GPR155	175019628	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.608000	0.74168	2.568000	0.86640	0.563000	0.77884	CGA		0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1		NM_152529		8	125	0	0	0	0.006214	0	8	125		
TTN	7273	broad.mit.edu	37	2	179474576	179474576	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179474576C>T	ENST00000591111.1	-	222	46875	c.46651G>A	c.(46651-46653)Gaa>Aaa	p.E15551K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8319K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17192K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14624K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8252K|TTN_ENST00000460472.2_Missense_Mutation_p.E8127K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15551	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E14624K(2)|p.E8319K(1)|p.E8127K(1)|p.E8252K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACCTTTCTTCACCCTTA	0.463																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	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.(43870-43872)GAA>AAA		titin isoform N2-A							439.0	417.0	424.0					2																	179474576		1935	4143	6078	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474576C>T	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.46651G>A	2.37:g.179474576C>T	ENSP00000465570:p.Glu15551Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8319K|TTN_uc010zfi.1_Missense_Mutation_p.E8252K|TTN_uc010zfj.1_Missense_Mutation_p.E8127K	p.E14624K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44094	-			15551					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.43870G>A		.	.	.	.	.	.	.	.	.	.	C	17.77	3.470180	0.63625	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52224	0.1721	N	0.25890	0.77	0.53005	D	0.999967	B;B;B;B	0.28713	0.22;0.22;0.22;0.22	B;B;B;B	0.33121	0.088;0.088;0.158;0.158	T	0.53535	-0.8425	9	0.87932	D	0	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	8127;8252;8319;15551	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14624;8127;8319;8252;8127	ENSP00000343764:E14624K;ENSP00000434586:E8127K;ENSP00000340554:E8319K;ENSP00000352154:E8252K	ENSP00000340554:E8319K	E	-	1	0	TTN	179182821	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	GAA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		50	486	0	0	0	0.00361	0	50	486		
TTN	7273	broad.mit.edu	37	2	179629030	179629030	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:179629030C>G	ENST00000591111.1	-	43	10213		c.e43-1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000578746.1_RNA			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)	p.?(6)		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)			ACTTCTGGAACTAAAGAAAGA	0.458																																						uc010zfg.1		NaN																	6	Unknown(6)		urinary_tract(6)	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.e43-1		titin isoform N2-A							47.0	45.0	46.0					2																	179629030		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629030C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9989-1G>C	2.37:g.179629030C>G						TTN_uc010zfh.1_Splice_Site_p.V3284_splice|TTN_uc010zfi.1_Splice_Site_p.V3284_splice|TTN_uc010zfj.1_Splice_Site_p.V3284_splice|TTN_uc002umz.1_Splice_Site|TTN_uc002unb.2_Splice_Site_p.V3330_splice	p.V3330_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		43	10213	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.9989_splice		.	.	.	.	.	.	.	.	.	.	C	21.4	4.141292	0.77775	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6457	0.85176	0.0:0.87:0.13:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179337275	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.609000	0.67661	1.383000	0.46405	0.655000	0.94253	.		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	Intron	4	41	0	0	0	0.009096	0	4	41		
ORMDL1	94101	broad.mit.edu	37	2	190636562	190636562	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:190636562G>C	ENST00000325795.3	-	3	1179	c.393C>G	c.(391-393)ctC>ctG	p.L131L	ORMDL1_ENST00000392349.4_Silent_p.L131L|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392350.3_Silent_p.L131L			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	131					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L131L(1)		breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GTACACTCAGGAGAGAAGCTG	0.313																																						uc002urb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(391-393)CTC>CTG		ORM1-like 1							85.0	87.0	86.0					2																	190636562		2203	4300	6503	SO:0001819	synonymous_variant	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190636562G>C		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.393C>G	2.37:g.190636562G>C						ORMDL1_uc002urc.3_Silent_p.L131L|ORMDL1_uc002urd.3_Silent_p.L131L|ORMDL1_uc002ure.3_Silent_p.L131L	p.L131L	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		3	1180	-			131					B2R8W3|D3DPH9	Silent	SNP	ENST00000325795.3	37	c.393C>G	CCDS2301.1																																																																																				0.313	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1		NM_016467		13	88	0	0	0	0.001855	0	13	88		
SGOL2	151246	broad.mit.edu	37	2	201436243	201436243	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:201436243G>C	ENST00000357799.4	+	7	1272	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	392					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E392Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAACAAATGAACATGGAAT	0.318																																						uc002uvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1174-1176)GAA>CAA		shugoshin-like 2 isoform 1							37.0	37.0	37.0					2																	201436243		1807	4063	5870	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436243G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1174G>C	2.37:g.201436243G>C	ENSP00000350447:p.Glu392Gln					SGOL2_uc010zhd.1_Missense_Mutation_p.E392Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E392Q	p.E392Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1287	+			392					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1174G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	3.308	-0.141359	0.06669	.	.	ENSG00000163535	ENST00000357799	T	0.12361	2.69	5.0	1.2	0.21068	.	0.789609	0.11632	N	0.544722	T	0.08891	0.0220	N	0.22421	0.69	0.09310	N	1	P;P;P	0.41265	0.744;0.744;0.744	B;B;B	0.38327	0.271;0.271;0.271	T	0.29852	-0.9998	10	0.31617	T	0.26	-0.7642	9.0655	0.36460	0.302:0.0:0.698:0.0	.	392;392;392	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	Q	392	ENSP00000350447:E392Q	ENSP00000350447:E392Q	E	+	1	0	SGOL2	201144488	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.183000	0.16919	0.379000	0.24794	0.585000	0.79938	GAA		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1		NM_152524		8	46	0	0	0	0.00308	0	8	46		
BMPR2	659	broad.mit.edu	37	2	203420419	203420419	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203420419C>G	ENST00000374580.4	+	12	2570	c.2031C>G	c.(2029-2031)ctC>ctG	p.L677L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	677					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L677L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATAAGAACCTCAAGGAAAGCT	0.463																																						uc002uzf.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2029-2031)CTC>CTG		bone morphogenetic protein receptor type II							64.0	67.0	66.0					2																	203420419		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420419C>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2031C>G	2.37:g.203420419C>G						BMPR2_uc010ftr.2_Intron	p.L677L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3179	+			677			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.2031C>G	CCDS33361.1																																																																																				0.463	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		10	68	0	0	0	0.006214	0	10	68		
ICA1L	130026	broad.mit.edu	37	2	203650667	203650667	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:203650667G>C	ENST00000392237.2	-	13	1464	c.1307C>G	c.(1306-1308)tCa>tGa	p.S436*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S436*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	436								p.S436*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGACTCTGTGAAGGCACTGG	0.323																																						uc002uzh.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1306-1308)TCA>TGA		islet cell autoantigen 1,69kDa-like isoform 1							99.0	106.0	104.0					2																	203650667		2203	4300	6503	SO:0001587	stop_gained	130026							g.chr2:203650667G>C	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1307C>G	2.37:g.203650667G>C	ENSP00000376070:p.Ser436*					ICA1L_uc002uzi.1_Nonsense_Mutation_p.S436*	p.S436*	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			13	1471	-			436					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Nonsense_Mutation	SNP	ENST00000392237.2	37	c.1307C>G	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390030	0.95988	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	4.99	2.18	0.27775	.	1.690550	0.03202	N	0.174871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	7.0266	0.24944	0.2882:0.0:0.7118:0.0	.	.	.	.	X	436	.	ENSP00000351047:S436X	S	-	2	0	ICA1L	203358912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.535000	0.36061	0.703000	0.31848	0.558000	0.71614	TCA		0.323	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1		NM_138468		14	74	0	0	0	0.00499	0	14	74		
CPS1	1373	broad.mit.edu	37	2	211481249	211481249	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:211481249C>G	ENST00000233072.5	+	21	2867	c.2671C>G	c.(2671-2673)Ctg>Gtg	p.L891V	CPS1_ENST00000430249.2_Missense_Mutation_p.L897V|CPS1_ENST00000451903.2_Missense_Mutation_p.L440V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	891					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L891V(1)|p.L897V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGAAAAGACACTGAAAGGCCT	0.398																																						uc002vee.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2671-2673)CTG>GTG		carbamoyl-phosphate synthetase 1 isoform b							144.0	147.0	146.0					2																	211481249		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211481249C>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2671C>G	2.37:g.211481249C>G	ENSP00000233072:p.Leu891Val					CPS1_uc010fur.2_Missense_Mutation_p.L897V|CPS1_uc010fus.2_Missense_Mutation_p.L440V|LOC29034_uc002vef.2_5'Flank	p.L891V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	21	2803	+			891					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2671C>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367306	0.61513	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97620	-4.46;-4.46;-4.46	5.62	4.74	0.60224	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.78916	2.43	0.44036	D	0.996762	D;D	0.69078	0.997;0.997	D;D	0.64776	0.929;0.929	D	0.97515	1.0069	10	0.52906	T	0.07	-14.8849	9.5215	0.39138	0.0:0.7853:0.0:0.2147	.	901;891	Q59HF8;P31327	.;CPSM_HUMAN	V	897;899;891;440	ENSP00000402608:L897V;ENSP00000233072:L891V;ENSP00000406136:L440V	ENSP00000233072:L891V	L	+	1	2	CPS1	211189494	0.975000	0.34042	1.000000	0.80357	0.953000	0.61014	2.306000	0.43673	1.485000	0.48380	0.655000	0.94253	CTG		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				4	107	0	0	0	0.000602	0	4	107		
ERBB4	2066	broad.mit.edu	37	2	212530179	212530179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:212530179G>T	ENST00000342788.4	-	15	2050	c.1740C>A	c.(1738-1740)tgC>tgA	p.C580*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.C580*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.C580*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	580	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C580C(1)|p.C580*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TAAAATGAGAGCACTTTGTAC	0.393										TSP Lung(8;0.080)																												uc002veg.1		NaN																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		urinary_tract(1)|endometrium(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1738-1740)TGC>TGA		v-erb-a erythroblastic leukemia viral oncogene							105.0	95.0	98.0					2																	212530179		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530179G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1740C>A	2.37:g.212530179G>T	ENSP00000342235:p.Cys580*	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zji.1_Nonsense_Mutation_p.C580*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.C580*|ERBB4_uc010fut.1_Nonsense_Mutation_p.C580*	p.C580*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1838	-		Renal(323;0.06)|Lung NSC(271;0.197)	580			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.1740C>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.878704|6.878704	0.97904|0.97904	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|.	.|.	.|.	4.94|4.94	-1.69|-1.69	0.08186|0.08186	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.51041|.	0.1651|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57768|.	-0.7754|.	3|.	.|.	.|.	.|.	.|.	12.4852|12.4852	0.55868|0.55868	0.5244:0.0:0.4756:0.0|0.5244:0.0:0.4756:0.0	.|.	.|.	.|.	.|.	D|X	580|580	.|.	.|.	A|C	-|-	2|3	0|2	ERBB4|ERBB4	212238424|212238424	0.922000|0.922000	0.31269|0.31269	0.972000|0.972000	0.41901|0.41901	0.968000|0.968000	0.65278|0.65278	0.073000|0.073000	0.14640|0.14640	-0.625000|-0.625000	0.05604|0.05604	-0.345000|-0.345000	0.07892|0.07892	GCT|TGC		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		NM_001042599		7	59	1	0	0.00307968	0.00308	0.00314745	7	59		
DAW1	164781	broad.mit.edu	37	2	228754637	228754637	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:228754637C>T	ENST00000309931.2	+	3	262	c.179C>T	c.(178-180)aCa>aTa	p.T60I	DAW1_ENST00000545118.1_Missense_Mutation_p.T45I|DAW1_ENST00000472604.1_3'UTR|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000373666.2_Missense_Mutation_p.T60I	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	60						cilium (GO:0005929)		p.T60I(1)									GCTTCACGAACAGAGCAAGTC	0.383																																						uc002vpn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(178-180)ACA>ATA		WD repeat domain 69							89.0	87.0	88.0					2																	228754637		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228754637C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.179C>T	2.37:g.228754637C>T	ENSP00000311899:p.Thr60Ile					WDR69_uc010zlw.1_Missense_Mutation_p.T45I|WDR69_uc002vpo.1_RNA	p.T60I	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	258	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	60					Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.179C>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	C	8.570	0.879838	0.17467	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.53640	0.68;0.62;0.94;0.61	5.45	3.64	0.41730	.	1.648740	0.03468	N	0.213192	T	0.45094	0.1325	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28776	-1.0033	10	0.44086	T	0.13	.	8.2368	0.31631	0.2777:0.6474:0.0:0.075	.	60	Q8N136	WDR69_HUMAN	I	60;60;45;45	ENSP00000362770:T60I;ENSP00000311899:T60I;ENSP00000394853:T45I;ENSP00000437887:T45I	ENSP00000311899:T60I	T	+	2	0	WDR69	228462881	0.000000	0.05858	0.003000	0.11579	0.992000	0.81027	0.384000	0.20668	0.764000	0.33197	0.650000	0.86243	ACA		0.383	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1		NM_178821		14	56	0	0	0	0.001855	0	14	56		
DIS3L2	129563	broad.mit.edu	37	2	233075107	233075107	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:233075107T>A	ENST00000409307.1	+	9	1196	c.1196T>A	c.(1195-1197)cTc>cAc	p.L399H	DIS3L2_ENST00000273009.6_Missense_Mutation_p.L399H|DIS3L2_ENST00000325385.7_Missense_Mutation_p.L399H					DIS3 like 3'-5' exoribonuclease 2									p.L399H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCAAGCCACTCGCTGACGGT	0.512																																						uc010fxz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1195-1197)CTC>CAC		DIS3 mitotic control homolog (S.							97.0	98.0	97.0					2																	233075107		2074	4233	6307	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233075107T>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1196T>A	2.37:g.233075107T>A	ENSP00000386799:p.Leu399His					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.L399H	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	10	1472	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	399						Missense_Mutation	SNP	ENST00000409307.1	37	c.1196T>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959847	0.74016	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.16	5.16	0.70880	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75889	-0.3158	10	0.87932	D	0	-16.4035	12.5058	0.55979	0.0:0.0:0.0:1.0	.	399	Q8IYB7	DI3L2_HUMAN	H	399;399;399;399;399;34	ENSP00000273009:L399H;ENSP00000315569:L399H;ENSP00000386799:L399H;ENSP00000415419:L34H	ENSP00000273009:L399H	L	+	2	0	DIS3L2	232783351	0.996000	0.38824	0.401000	0.26359	0.931000	0.56810	5.547000	0.67249	1.928000	0.55862	0.374000	0.22700	CTC		0.512	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1		NM_152383		3	31	0	0	0	0.004672	0	3	31		
GPR35	2859	broad.mit.edu	37	2	241569480	241569480	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr2:241569480C>G	ENST00000319838.5	+	6	1053	c.111C>G	c.(109-111)ctC>ctG	p.L37L	GPR35_ENST00000403859.1_Silent_p.L37L|GPR35_ENST00000407714.1_Silent_p.L37L|GPR35_ENST00000438013.2_Silent_p.L68L|GPR35_ENST00000430267.1_Silent_p.L37L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L37L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCTGCTGCTCAACAGCCTGG	0.642																																						uc002vzs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|pancreas(1)	3						c.(109-111)CTC>CTG		G protein-coupled receptor 35							72.0	67.0	69.0					2																	241569480		2203	4300	6503	SO:0001819	synonymous_variant	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569480C>G		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.111C>G	2.37:g.241569480C>G						GPR35_uc010fzh.1_Silent_p.L68L|GPR35_uc010fzi.1_Silent_p.L68L	p.L37L	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	1	686	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	37			Helical; Name=1; (Potential).		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	c.111C>G	CCDS2541.1																																																																																				0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1		NM_001195382		5	38	0	0	0	0.000602	0	5	38		
CPXM1	56265	broad.mit.edu	37	20	2777020	2777020	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:2777020A>T	ENST00000380605.2	-	9	1179	c.1115T>A	c.(1114-1116)cTc>cAc	p.L372H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	372	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L372H(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGCATCAGGAGCAGAAGCAA	0.642																																						uc002wgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1114-1116)CTC>CAC		carboxypeptidase X, member 1 precursor							86.0	83.0	84.0					20																	2777020		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2777020A>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1115T>A	20.37:g.2777020A>T	ENSP00000369979:p.Leu372His					CPXM1_uc010gas.2_Missense_Mutation_p.L372H	p.L372H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			9	1179	-			372			Poly-Leu.		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1115T>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379731	0.42207	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03441	3.93	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (2);	0.170542	0.48767	D	0.000161	T	0.09423	0.0232	L	0.42245	1.32	0.25112	N	0.990703	P;D	0.64830	0.885;0.994	P;D	0.66497	0.771;0.944	T	0.25363	-1.0134	10	0.30078	T	0.28	-17.7416	8.7391	0.34547	0.8316:0.0:0.0:0.1684	.	372;372	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	H	372;68	ENSP00000369979:L372H	ENSP00000369979:L372H	L	-	2	0	CPXM1	2725020	0.006000	0.16342	0.974000	0.42286	0.984000	0.73092	1.861000	0.39438	2.279000	0.76181	0.533000	0.62120	CTC		0.642	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2		NM_019609		11	86	0	0	0	0.008291	0	11	86		
PLAGL2	5326	broad.mit.edu	37	20	30784748	30784748	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:30784748G>C	ENST00000246229.4	-	3	1262	c.998C>G	c.(997-999)tCt>tGt	p.S333C		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	333					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S333C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTGGGGAAGAGATAGGTGA	0.562																																					Colon(163;15 1893 11280 16306 47518)	uc002wxn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(997-999)TCT>TGT		pleiomorphic adenoma gene-like 2							75.0	80.0	78.0					20																	30784748		2203	4299	6502	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784748G>C		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.998C>G	20.37:g.30784748G>C	ENSP00000246229:p.Ser333Cys						p.S333C	NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1215	-			333					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.998C>G	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739304	0.30774	.	.	ENSG00000126003	ENST00000246229	T	0.10005	2.92	5.33	5.33	0.75918	.	0.173944	0.53938	D	0.000060	T	0.11410	0.0278	N	0.22421	0.69	0.47994	D	0.999565	D	0.60160	0.987	P	0.48189	0.57	T	0.01925	-1.1246	10	0.49607	T	0.09	.	13.1867	0.59686	0.0:0.0:0.8409:0.1591	.	333	Q9UPG8	PLAL2_HUMAN	C	333	ENSP00000246229:S333C	ENSP00000246229:S333C	S	-	2	0	PLAGL2	30248409	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.761000	0.68801	2.774000	0.95407	0.650000	0.86243	TCT		0.562	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2		NM_002657		5	227	0	0	0	0.001168	0	5	227		
PLCG1	5335	broad.mit.edu	37	20	39802821	39802821	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:39802821G>C	ENST00000373271.1	+	31	4105	c.3700G>C	c.(3700-3702)Gat>Cat	p.D1234H	PLCG1_ENST00000373272.2_Missense_Mutation_p.D1235H|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.D1235H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1234					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.D1235H(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCGGGGCTCAGATGCCTCAGG	0.597																																						uc002xjp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(3)|skin(2)	8						c.(3700-3702)GAT>CAT		phospholipase C, gamma 1 isoform b							65.0	69.0	67.0					20																	39802821		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802821G>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3700G>C	20.37:g.39802821G>C	ENSP00000362368:p.Asp1234His					PLCG1_uc002xjo.1_Missense_Mutation_p.D1235H|PLCG1_uc010zwe.1_Missense_Mutation_p.D900H	p.D1234H	NM_182811	NP_877963	P19174	PLCG1_HUMAN			31	3821	+		Myeloproliferative disorder(115;0.00878)	1234					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3700G>C	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160801	0.57368	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.43688	0.94;0.94;0.94	5.7	3.76	0.43208	.	0.172512	0.51477	D	0.000094	T	0.49115	0.1538	L	0.46157	1.445	0.49130	D	0.999756	P;B;P	0.44578	0.838;0.271;0.75	P;B;P	0.53861	0.736;0.365;0.548	T	0.51733	-0.8668	10	0.72032	D	0.01	.	11.55	0.50715	0.1433:0.0:0.8567:0.0	.	1235;1234;1235	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	H	1235;1234;1235	ENSP00000244007:D1235H;ENSP00000362368:D1234H;ENSP00000362369:D1235H	ENSP00000244007:D1235H	D	+	1	0	PLCG1	39236235	0.942000	0.31987	0.681000	0.30009	0.746000	0.42486	2.846000	0.48262	1.419000	0.47118	0.455000	0.32223	GAT		0.597	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3		NM_182811		9	76	0	0	0	0.004482	0	9	76		
RBPJL	11317	broad.mit.edu	37	20	43943062	43943062	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:43943062A>G	ENST00000343694.3	+	9	949	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.K293E|RBPJL_ENST00000372743.1_Missense_Mutation_p.K293E	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	293					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)	p.K293E(1)		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)				GATCATCCGTAAAGTAGCAAA	0.577																																						uc002xns.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(877-879)AAA>GAA		recombining binding protein L							166.0	148.0	154.0					20																	43943062		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43943062A>G	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.877A>G	20.37:g.43943062A>G	ENSP00000341243:p.Lys293Glu					RBPJL_uc002xnt.2_Missense_Mutation_p.K293E	p.K293E	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			9	949	+		Myeloproliferative disorder(115;0.0122)	293			By similarity.		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.877A>G	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454791	0.63290	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.41400	1.0;1.0;1.0	5.03	5.03	0.67393	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66424	-0.5927	10	0.87932	D	0	-11.0091	14.0962	0.65023	1.0:0.0:0.0:0.0	.	293;293	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	E	293	ENSP00000361828:K293E;ENSP00000361826:K293E;ENSP00000341243:K293E	ENSP00000341243:K293E	K	+	1	0	RBPJL	43376476	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	8.596000	0.90844	2.107000	0.64212	0.460000	0.39030	AAA		0.577	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1		NM_014276		4	163	0	0	0	0.009096	0	4	163		
ZBP1	81030	broad.mit.edu	37	20	56186846	56186846	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr20:56186846C>G	ENST00000371173.3	-	6	988	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	ZBP1_ENST00000340462.4_Missense_Mutation_p.E248Q|ZBP1_ENST00000343535.4_Missense_Mutation_p.E271Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.E196Q	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	271					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.E271Q(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGCCTCATCTCATTGCTGTGT	0.632																																						uc002xyo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(811-813)GAG>CAG		Z-DNA binding protein 1 isoform a							38.0	39.0	39.0					20																	56186846		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186846C>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.811G>C	20.37:g.56186846C>G	ENSP00000360215:p.Glu271Gln					ZBP1_uc010gjm.2_Missense_Mutation_p.E270Q|ZBP1_uc002xyp.2_Missense_Mutation_p.E196Q	p.E271Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		6	1092	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		271			RIP homotypic interaction motif (RHIM) 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.811G>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246114	0.39697	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.15139	2.81;2.45;2.82;2.78	3.25	-4.46	0.03536	.	0.592659	0.14075	N	0.343144	T	0.11580	0.0282	L	0.50333	1.59	0.09310	N	1	P;P;P	0.38551	0.463;0.636;0.636	B;B;B	0.35770	0.125;0.21;0.21	T	0.06409	-1.0828	10	0.66056	D	0.02	-9.8926	4.8808	0.13679	0.0:0.2025:0.3134:0.4842	.	271;196;271	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	Q	271;196;248;271;271	ENSP00000360215:E271Q;ENSP00000379167:E196Q;ENSP00000344954:E248Q;ENSP00000340584:E271Q	ENSP00000344954:E248Q	E	-	1	0	ZBP1	55620252	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.489000	0.02306	-1.015000	0.03375	0.555000	0.69702	GAG		0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1		NM_030776		5	20	0	0	0	0.000602	0	5	20		
NRIP1	8204	broad.mit.edu	37	21	16337647	16337647	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16337647G>C	ENST00000400202.1	-	3	3579	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C	NRIP1_ENST00000400199.1_Missense_Mutation_p.S956C|NRIP1_ENST00000318948.4_Missense_Mutation_p.S956C|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	956	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S956C(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTCAGCCACAGAGTTACTTCT	0.418																																						uc002yjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2866-2868)TCT>TGT		nuclear receptor interacting protein 1							84.0	83.0	83.0					21																	16337647		2203	4299	6502	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337647G>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2867C>G	21.37:g.16337647G>C	ENSP00000383063:p.Ser956Cys						p.S956C	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3465	-			956					Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.2867C>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743349	0.49151	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.10005	2.92;2.92;2.92	5.87	4.98	0.66077	.	0.446552	0.22467	N	0.059678	T	0.07683	0.0193	N	0.24115	0.695	0.32679	N	0.515729	B	0.16166	0.016	B	0.14023	0.01	T	0.05209	-1.0899	10	0.49607	T	0.09	-23.5058	7.71	0.28671	0.1389:0.1452:0.7159:0.0	.	956	P48552	NRIP1_HUMAN	C	956	ENSP00000383060:S956C;ENSP00000383063:S956C;ENSP00000327213:S956C	ENSP00000327213:S956C	S	-	2	0	NRIP1	15259518	1.000000	0.71417	0.998000	0.56505	0.598000	0.36846	5.449000	0.66619	1.586000	0.49944	0.655000	0.94253	TCT		0.418	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		39	193	0	0	0	0.00623	0	39	193		
NRIP1	8204	broad.mit.edu	37	21	16338392	16338392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16338392C>A	ENST00000400202.1	-	3	2834	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E708*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E708*|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	708					androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E708*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTACGTCTTTCAAGCAGATTT	0.403																																						uc002yjx.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(2122-2124)GAA>TAA		nuclear receptor interacting protein 1							70.0	68.0	69.0					21																	16338392		2203	4299	6502	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338392C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2122G>T	21.37:g.16338392C>A	ENSP00000383063:p.Glu708*						p.E708*	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	2720	-			708					Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.2122G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	46	12.323443	0.99657	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.4684	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	708	.	ENSP00000327213:E708X	E	-	1	0	NRIP1	15260263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.305000	0.78891	2.865000	0.98341	0.655000	0.94253	GAA		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		20	108	1	0	4.35082e-09	0.010504	4.69933e-09	20	108		
NRIP1	8204	broad.mit.edu	37	21	16340196	16340196	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340196C>T	ENST00000400202.1	-	3	1030	c.318G>A	c.(316-318)atG>atA	p.M106I	NRIP1_ENST00000400199.1_Missense_Mutation_p.M106I|NRIP1_ENST00000318948.4_Missense_Mutation_p.M106I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	106	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.M106I(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGTTTAAATTCATGATAGAAT	0.468																																						uc002yjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(316-318)ATG>ATA		nuclear receptor interacting protein 1							109.0	107.0	108.0					21																	16340196		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16340196C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.318G>A	21.37:g.16340196C>T	ENSP00000383063:p.Met106Ile						p.M106I	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	916	-			106			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.318G>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200633	0.22121	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.07021	3.23;3.23;3.23	5.8	-2.09	0.07232	.	0.439264	0.23910	N	0.043341	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	10	0.45353	T	0.12	-10.0173	10.555	0.45112	0.1382:0.6921:0.0:0.1697	.	106	P48552	NRIP1_HUMAN	I	106	ENSP00000383060:M106I;ENSP00000383063:M106I;ENSP00000327213:M106I	ENSP00000327213:M106I	M	-	3	0	NRIP1	15262067	0.384000	0.25164	0.995000	0.50966	0.926000	0.56050	-0.292000	0.08332	-0.282000	0.09128	-1.068000	0.02270	ATG		0.468	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		18	140	0	0	0	0.007413	0	18	140		
NRIP1	8204	broad.mit.edu	37	21	16340220	16340220	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:16340220C>T	ENST00000400202.1	-	3	1006	c.294G>A	c.(292-294)cgG>cgA	p.R98R	NRIP1_ENST00000400199.1_Silent_p.R98R|NRIP1_ENST00000318948.4_Silent_p.R98R			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	98	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R98R(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACAGCCTCTTCCGCTTTGCTG	0.458																																						uc002yjx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(292-294)CGG>CGA		nuclear receptor interacting protein 1							92.0	91.0	91.0					21																	16340220		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16340220C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.294G>A	21.37:g.16340220C>T							p.R98R	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	892	-			98			Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.294G>A	CCDS13568.1																																																																																				0.458	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		15	101	0	0	0	0.004007	0	15	101		
JAM2	58494	broad.mit.edu	37	21	27062211	27062211	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:27062211C>A	ENST00000480456.1	+	3	717	c.167C>A	c.(166-168)aCt>aAt	p.T56N	JAM2_ENST00000312957.5_Missense_Mutation_p.T56N|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.T56N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	56	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.T56N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCAAAGAAGACTGTTTCCTCC	0.393																																						uc002ylp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(166-168)ACT>AAT		junctional adhesion molecule 2 precursor							137.0	136.0	136.0					21																	27062211		1812	4076	5888	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27062211C>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.167C>A	21.37:g.27062211C>A	ENSP00000420419:p.Thr56Asn					JAM2_uc011ace.1_Missense_Mutation_p.T56N|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.T56N|JAM2_uc010gli.1_Missense_Mutation_p.T56N	p.T56N	NM_021219	NP_067042	P57087	JAM2_HUMAN			3	712	+			56			Ig-like V-type.|Extracellular (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.167C>A	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802639	0.50315	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957	T;T;T	0.64991	-0.13;-0.13;-0.13	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.210963	0.47455	D	0.000232	T	0.53997	0.1831	L	0.42245	1.32	0.80722	D	1	P;P;P;P	0.47191	0.833;0.833;0.891;0.695	B;B;B;B	0.43225	0.396;0.396;0.412;0.297	T	0.47861	-0.9084	10	0.15066	T	0.55	.	13.9734	0.64255	0.0:1.0:0.0:0.0	.	56;56;56;56	A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;JAM2_HUMAN	N	56	ENSP00000420419:T56N;ENSP00000383376:T56N;ENSP00000318416:T56N	ENSP00000318416:T56N	T	+	2	0	JAM2	25984082	0.800000	0.28916	0.889000	0.34880	0.678000	0.39670	1.475000	0.35409	2.758000	0.94735	0.557000	0.71058	ACT		0.393	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1				16	211	1	0	2.35188e-11	0.006122	2.58707e-11	16	211		
BACH1	571	broad.mit.edu	37	21	30701862	30701862	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:30701862C>G	ENST00000399921.1	+	4	1867	c.1624C>G	c.(1624-1626)Cag>Gag	p.Q542E	BACH1_ENST00000286800.3_Missense_Mutation_p.Q542E	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q542*(1)|p.Q542E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAATGATTTTCAGTCCTTGTT	0.343																																						uc002ynj.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|lung(1)	ovary(1)|liver(1)	2						c.(1624-1626)CAG>GAG		BTB and CNC homology 1 transcription factor							72.0	70.0	71.0					21																	30701862		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30701862C>G	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1624C>G	21.37:g.30701862C>G	ENSP00000382805:p.Gln542Glu					BACH1_uc002ynk.2_Missense_Mutation_p.Q542E|BACH1_uc002ynl.2_RNA	p.Q542E	NM_001186	NP_001177	O14867	BACH1_HUMAN			4	1739	+			542					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.1624C>G	CCDS13585.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.3|28.3|28.3	4.908785|4.908785|4.908785	0.92107|0.92107|0.92107	.|.|.	.|.|.	ENSG00000156273|ENSG00000156273|ENSG00000156273	ENST00000551628|ENST00000286800;ENST00000399921|ENST00000422809	.|D;D|.	.|0.91124|.	.|-2.79;-2.79|.	5.43|5.43|5.43	5.43|5.43|5.43	0.79202|0.79202|0.79202	.|Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|.	0.73900|0.73900|.	0.3646|0.3646|.	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|P|.	.|0.52061|.	.|0.95|.	.|P|.	.|0.51918|.	.|0.684|.	T|T|.	0.71603|0.71603|.	-0.4543|-0.4543|.	6|10|.	0.42905|0.72032|.	T|D|.	0.14|0.01|.	-20.107|-20.107|-20.107	19.2326|19.2326|19.2326	0.93846|0.93846|0.93846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|542|.	.|O14867|.	.|BACH1_HUMAN|.	L|E|X	35|542|107	.|ENSP00000286800:Q542E;ENSP00000382805:Q542E|.	ENSP00000448719:F35L|ENSP00000286800:Q542E|.	F|Q|S	+|+|+	3|1|2	2|0|0	BACH1|BACH1|BACH1	29623733|29623733|29623733	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.553000|2.553000|2.553000	0.86117|0.86117|0.86117	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CAG|TCA		0.343	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1		NM_206866		11	41	0	0	0	0.008291	0	11	41		
DNAJC28	54943	broad.mit.edu	37	21	34860591	34860591	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:34860591C>G	ENST00000314399.3	-	2	1548	c.1110G>C	c.(1108-1110)aaG>aaC	p.K370N	DNAJC28_ENST00000381947.3_Missense_Mutation_p.K370N|DNAJC28_ENST00000402202.1_Missense_Mutation_p.K370N	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	370				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). {ECO:0000305}.				p.K370N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AAAAACCTTTCTTGATTTCAG	0.318																																						uc002yrv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1108-1110)AAG>AAC		DnaJ (Hsp40) homolog, subfamily C, member 28							103.0	100.0	101.0					21																	34860591		2202	4299	6501	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34860591C>G	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.1110G>C	21.37:g.34860591C>G	ENSP00000320303:p.Lys370Asn					DNAJC28_uc002yrw.2_Missense_Mutation_p.K370N	p.K370N	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	1559	-			370	LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).				D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.1110G>C	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010755	0.19277	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.44	5.44	0.79542	.	0.108385	0.64402	D	0.000010	T	0.52677	0.1749	M	0.77616	2.38	0.34333	D	0.687935	P	0.47191	0.891	B	0.40506	0.331	T	0.71663	-0.4525	9	0.72032	D	0.01	-19.6474	9.8949	0.41311	0.0:0.8474:0.0:0.1526	.	370	Q9NX36	DJC28_HUMAN	N	370	.	ENSP00000320303:K370N	K	-	3	2	DNAJC28	33782461	0.998000	0.40836	0.244000	0.24202	0.227000	0.25037	2.348000	0.44045	2.720000	0.93068	0.650000	0.86243	AAG		0.318	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3				20	94	0	0	0	0.010504	0	20	94		
PDE9A	5152	broad.mit.edu	37	21	44179187	44179187	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr21:44179187A>T	ENST00000291539.6	+	11	949	c.889A>T	c.(889-891)Agg>Tgg	p.R297W	PDE9A_ENST00000335512.4_Missense_Mutation_p.R237W|PDE9A_ENST00000398232.3_Missense_Mutation_p.R230W|PDE9A_ENST00000380328.2_Missense_Mutation_p.R244W|PDE9A_ENST00000349112.3_Missense_Mutation_p.R169W|PDE9A_ENST00000398225.3_Missense_Mutation_p.R256W|PDE9A_ENST00000398234.3_Missense_Mutation_p.R196W|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.R211W|PDE9A_ENST00000539837.1_Missense_Mutation_p.R169W|PDE9A_ENST00000398227.3_Missense_Mutation_p.R137W|PDE9A_ENST00000328862.6_Missense_Mutation_p.R271W|PDE9A_ENST00000398224.3_Missense_Mutation_p.R170W|PDE9A_ENST00000398229.3_Missense_Mutation_p.R163W|PDE9A_ENST00000335440.6_Missense_Mutation_p.R195W	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	297	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.R297W(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CACCCTCAGGAGGTGGCTGGT	0.587																																						uc002zbm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(889-891)AGG>TGG		phosphodiesterase 9A isoform a							91.0	67.0	75.0					21																	44179187		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44179187A>T	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.889A>T	21.37:g.44179187A>T	ENSP00000291539:p.Arg297Trp					PDE9A_uc002zbn.2_Missense_Mutation_p.R170W|PDE9A_uc002zbo.2_Missense_Mutation_p.R244W|PDE9A_uc002zbp.2_Missense_Mutation_p.R90W|PDE9A_uc002zbq.2_Missense_Mutation_p.R195W|PDE9A_uc002zbs.2_Missense_Mutation_p.R90W|PDE9A_uc002zbr.2_Missense_Mutation_p.R90W|PDE9A_uc002zbt.2_Missense_Mutation_p.R169W|PDE9A_uc002zbu.2_Missense_Mutation_p.R163W|PDE9A_uc002zbv.2_Missense_Mutation_p.R137W|PDE9A_uc002zbw.2_Missense_Mutation_p.R80W|PDE9A_uc002zbx.2_Missense_Mutation_p.R237W|PDE9A_uc002zby.2_Missense_Mutation_p.R80W|PDE9A_uc002zbz.2_Missense_Mutation_p.R189W|PDE9A_uc002zca.2_Missense_Mutation_p.R256W|PDE9A_uc002zcb.2_Missense_Mutation_p.R271W|PDE9A_uc002zcc.2_Missense_Mutation_p.R196W|PDE9A_uc002zcd.2_Missense_Mutation_p.R211W|PDE9A_uc002zce.2_Missense_Mutation_p.R230W|PDE9A_uc002zcf.2_Missense_Mutation_p.R90W|PDE9A_uc002zcg.2_Missense_Mutation_p.R90W|PDE9A_uc002zch.2_Missense_Mutation_p.R80W|PDE9A_uc010gpf.1_Missense_Mutation_p.R90W	p.R297W	NM_002606	NP_002597	O76083	PDE9A_HUMAN			11	952	+			297			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.889A>T	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451244	0.63290	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	4.97	-0.843	0.10744	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	M	0.85373	2.75	0.38998	D	0.959282	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.71674	0.89;0.967;0.967;0.967;0.967;0.974;0.997;0.967;0.967;0.967;0.967;0.987;0.998;0.987;0.967;0.945	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.61201	0.535;0.535;0.658;0.535;0.744;0.735;0.885;0.658;0.535;0.535;0.535;0.76;0.885;0.658;0.658;0.334	D	0.87981	0.2743	10	0.87932	D	0	.	15.4672	0.75409	0.4153:0.5847:0.0:0.0	.	169;230;211;196;271;256;189;237;80;137;163;169;195;244;170;297	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	W	237;169;297;244;230;196;211;271;195;256;163;137;169;170	ENSP00000335242:R237W;ENSP00000441899:R169W;ENSP00000291539:R297W;ENSP00000369685:R244W;ENSP00000381287:R230W;ENSP00000381289:R196W;ENSP00000381291:R211W;ENSP00000328699:R271W;ENSP00000335365:R195W;ENSP00000381281:R256W;ENSP00000381285:R163W;ENSP00000381283:R137W;ENSP00000344730:R169W;ENSP00000381280:R170W	ENSP00000291539:R297W	R	+	1	2	PDE9A	43052256	1.000000	0.71417	0.873000	0.34254	0.727000	0.41649	0.854000	0.27791	-0.420000	0.07427	-0.501000	0.04562	AGG		0.587	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1				3	30	0	0	0	0.009096	0	3	30		
GAB4	128954	broad.mit.edu	37	22	17449260	17449260	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:17449260C>T	ENST00000400588.1	-	5	1058	c.951G>A	c.(949-951)aaG>aaA	p.K317K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	317								p.K317K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGGGTGTACTTGCCGGAGG	0.577																																						uc002zlw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(949-951)AAG>AAA		GRB2-associated binding protein family, member							110.0	111.0	111.0					22																	17449260		2203	4300	6503	SO:0001819	synonymous_variant	128954							g.chr22:17449260C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.951G>A	22.37:g.17449260C>T						GAB4_uc010gqs.1_Missense_Mutation_p.V217I	p.K317K	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			5	1059	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	317						Silent	SNP	ENST00000400588.1	37	c.951G>A	CCDS42976.1																																																																																				0.577	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1		XM_372882		11	45	0	0	0	0.00245	0	11	45		
ATP6V1E1	529	broad.mit.edu	37	22	18075495	18075495	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:18075495G>C	ENST00000253413.5	-	9	808	c.626C>G	c.(625-627)cCa>cGa	p.P209R	ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.P187R|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.P179R	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	209					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)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.P209R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CCGGACTTCTGGCATCATCTG	0.453																																						uc002zmr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|central_nervous_system(1)	2						c.(625-627)CCA>CGA		vacuolar H+ ATPase E1 isoform a							113.0	105.0	108.0					22																	18075495		2203	4300	6503	SO:0001583	missense	529				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr22:18075495G>C	X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.626C>G	22.37:g.18075495G>C	ENSP00000253413:p.Pro209Arg					ATP6V1E1_uc002zms.1_Missense_Mutation_p.P179R|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.P187R	p.P209R	NM_001696	NP_001687	P36543	VATE1_HUMAN		Lung(27;0.19)	9	813	-		all_epithelial(15;0.206)	209					A8MUE4|A8MUN4	Missense_Mutation	SNP	ENST00000253413.5	37	c.626C>G	CCDS13745.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267623	0.40095	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798	.	.	.	4.77	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	H	0.95402	3.665	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;D	0.79784	0.991;0.983;0.993	D	0.89157	0.3527	9	0.87932	D	0	-8.852	12.2854	0.54789	0.0841:0.0:0.9159:0.0	.	187;179;209	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	R	209;179;187	.	ENSP00000253413:P209R	P	-	2	0	ATP6V1E1	16455495	1.000000	0.71417	0.984000	0.44739	0.086000	0.17979	8.336000	0.90033	1.372000	0.46190	-0.142000	0.14014	CCA		0.453	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131790.3		NM_001696		25	84	0	0	0	0.005443	0	25	84		
SEC14L3	266629	broad.mit.edu	37	22	30866040	30866040	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:30866040T>A	ENST00000215812.4	-	4	290	c.200A>T	c.(199-201)gAt>gTt	p.D67V	SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000415957.2_Missense_Mutation_p.D8V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000403066.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.D8V	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	67						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.D67V(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATGGTCAATATCCATGGTCTT	0.542																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(199-201)GAT>GTT		SEC14-like 3	Vitamin E(DB00163)						157.0	147.0	150.0					22																	30866040		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866040T>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.200A>T	22.37:g.30866040T>A	ENSP00000215812:p.Asp67Val					SEC14L3_uc003ahz.2_5'UTR|SEC14L3_uc003aia.2_Missense_Mutation_p.D8V|SEC14L3_uc003aib.2_Missense_Mutation_p.D8V	p.D67V	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			4	289	-			67					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.200A>T	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.20|17.20	3.328956|3.328956	0.60743|0.60743	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000401751;ENST00000539629|ENST00000435069	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;1.47;-0.14;-0.14|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Cellular retinaldehyde-binding/triple function, C-terminal (1);Phosphatidylinositol transfer protein-like, N-terminal (1);|.	0.215894|.	0.47852|.	D|.	0.000204|.	T|T	0.73313|0.73313	0.3571|0.3571	M|M	0.77712|0.77712	2.385|2.385	0.80722|0.80722	D|D	1|1	B|.	0.28850|.	0.225|.	B|.	0.28916|.	0.096|.	T|T	0.74780|0.74780	-0.3549|-0.3549	10|5	0.72032|.	D|.	0.01|.	-15.3952|-15.3952	11.6144|11.6144	0.51080|0.51080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	67|.	Q9UDX4|.	S14L3_HUMAN|.	V|L	8;8;67;8;8|33	ENSP00000385941:D8V;ENSP00000401864:D8V;ENSP00000215812:D67V;ENSP00000383896:D8V;ENSP00000444691:D8V|.	ENSP00000215812:D67V|.	D|I	-|-	2|1	0|0	SEC14L3|SEC14L3	29196040|29196040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	5.890000|5.890000	0.69774|0.69774	1.996000|1.996000	0.58369|0.58369	0.523000|0.523000	0.50628|0.50628	GAT|ATA		0.542	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4		NM_174975		109	59	0	0	0	0.00361	0	109	59		
APOL1	8542	broad.mit.edu	37	22	36661303	36661303	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:36661303C>T	ENST00000397278.3	+	6	650	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	APOL1_ENST00000347595.7_Silent_p.L20L|APOL1_ENST00000422706.1_Silent_p.L141L|APOL1_ENST00000319136.4_Silent_p.L157L|APOL1_ENST00000397279.4_Silent_p.L141L|APOL1_ENST00000426053.1_Silent_p.L123L|APOL1_ENST00000440669.2_3'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	141					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.L157L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAACTGGTTTCTGAAAGAGTT	0.473																																						uc003apf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(421-423)CTG>TTG		apolipoprotein L1 isoform a precursor							97.0	91.0	93.0					22																	36661303		2203	4300	6503	SO:0001819	synonymous_variant	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661303C>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.421C>T	22.37:g.36661303C>T						APOL1_uc011amn.1_Silent_p.L18L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.L157L|APOL1_uc011amo.1_Silent_p.L18L|APOL1_uc011amp.1_Silent_p.L141L|APOL1_uc011amq.1_Silent_p.L123L|APOL1_uc010gwx.2_Silent_p.L18L	p.L141L	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	589	+			141					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	37	c.421C>T	CCDS13926.1																																																																																				0.473	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4		NM_145343		16	82	0	0	0	0.004007	0	16	82		
CACNA1I	8911	broad.mit.edu	37	22	40066081	40066081	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:40066081C>T	ENST00000402142.3	+	25	4233	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F	CACNA1I_ENST00000336649.4_Silent_p.F1417F|CACNA1I_ENST00000401624.1_Silent_p.F1411F|CACNA1I_ENST00000407673.1_Silent_p.F1376F|CACNA1I_ENST00000404898.1_Silent_p.F1376F|CACNA1I_ENST00000400164.3_Silent_p.F1376F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1411					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F1376F(1)|p.F1411F(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTGTACTTCATCTCCTTCC	0.577																																						uc003ayc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)|central_nervous_system(1)	2						c.(4231-4233)TTC>TTT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						359.0	357.0	358.0					22																	40066081		2134	4248	6382	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066081C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4233C>T	22.37:g.40066081C>T						CACNA1I_uc003ayd.2_Silent_p.F1376F|CACNA1I_uc003aye.2_Silent_p.F1326F|CACNA1I_uc003ayf.2_Silent_p.F1291F	p.F1411F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			25	4233	+	Melanoma(58;0.0749)		1411			Helical; Name=S6 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.4233C>T	CCDS46710.1																																																																																				0.577	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		37	194	0	0	0	0.006999	0	37	194		
PPP6R2	9701	broad.mit.edu	37	22	50869673	50869673	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr22:50869673C>G	ENST00000216061.5	+	12	1567	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	PPP6R2_ENST00000395741.3_Silent_p.L400L|PPP6R2_ENST00000395744.3_Silent_p.L399L|PPP6R2_ENST00000359139.3_Silent_p.L399L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	399						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L399L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGCTATTCTCTCCCACGCTG	0.547																																						uc003blb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1195-1197)CTC>CTG		SAPS domain family, member 2							94.0	102.0	100.0					22																	50869673		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50869673C>G	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1197C>G	22.37:g.50869673C>G						SAPS2_uc003bky.1_Silent_p.L399L|SAPS2_uc003bkz.1_Silent_p.L399L|SAPS2_uc003blc.2_Silent_p.L399L|SAPS2_uc003bla.1_Silent_p.L400L|SAPS2_uc003bld.1_5'UTR	p.L399L	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	12	1619	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	399					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.1197C>G																																																																																					0.547	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1		NM_014678		31	100	0	0	0	0.004878	0	31	100		
CRELD1	78987	broad.mit.edu	37	3	9979321	9979321	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:9979321G>A	ENST00000383811.3	+	3	932	c.333G>A	c.(331-333)ctG>ctA	p.L111L	CRELD1_ENST00000326434.5_Silent_p.L111L|CRELD1_ENST00000452070.1_Silent_p.L111L|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000397170.3_Silent_p.L111L	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	111					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L111L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGCTGGAGCTGAGTGAGGAGC	0.602																																						uc003bug.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(331-333)CTG>CTA		cysteine-rich with EGF-like domains 1 isoform 3							83.0	69.0	74.0					3																	9979321		2203	4300	6503	SO:0001819	synonymous_variant	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9979321G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.333G>A	3.37:g.9979321G>A						CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.L111L|CRELD1_uc003buh.2_Silent_p.L111L|CRELD1_uc003bui.2_Silent_p.L111L|CRELD1_uc003buj.2_RNA	p.L111L	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			4	451	+			111			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	c.333G>A	CCDS2593.1																																																																																				0.602	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1		NM_015513		3	10	0	0	0	0.004672	0	3	10		
VGLL4	9686	broad.mit.edu	37	3	11643348	11643348	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:11643348G>C	ENST00000413604.1	-	2	406	c.36C>G	c.(34-36)aaC>aaG	p.N12K	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Missense_Mutation_p.N76K|VGLL4_ENST00000430365.2_Missense_Mutation_p.N77K|VGLL4_ENST00000273038.3_Missense_Mutation_p.N71K			Q14135	VGLL4_HUMAN	vestigial-like family member 4	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N71K(1)|p.N77K(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		AGACGTGGTCGTTGTCACAGT	0.557																																						uc003bwf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(211-213)AAC>AAG		vestigial like 4 isoform b							147.0	138.0	141.0					3																	11643348		2203	4300	6503	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643348G>C	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000413604.1:c.36C>G	3.37:g.11643348G>C	ENSP00000404624:p.Asn12Lys					VGLL4_uc010hdx.1_Missense_Mutation_p.N77K|VGLL4_uc003bwg.2_Missense_Mutation_p.N76K|VGLL4_uc011aun.1_Missense_Mutation_p.N12K	p.N71K	NM_014667	NP_055482	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	579	-			71					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000413604.1	37	c.213C>G		.	.	.	.	.	.	.	.	.	.	G	13.55	2.270806	0.40194	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000430365;ENST00000404339;ENST00000445411;ENST00000418000;ENST00000458499;ENST00000417206;ENST00000424709;ENST00000419541;ENST00000437722	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.33	-10.1	0.00402	.	0.366248	0.32416	N	0.006134	T	0.35335	0.0928	L	0.56769	1.78	0.36349	D	0.859955	P;P;P	0.41673	0.759;0.6;0.712	B;B;B	0.38985	0.287;0.193;0.209	T	0.58370	-0.7648	10	0.44086	T	0.13	-9.6076	21.4157	0.99953	0.2368:0.0:0.7632:0.0	.	77;76;71	G5E9M7;G5E9F4;Q14135	.;.;VGLL4_HUMAN	K	71;12;77;76;71;71;67;71;12;71;12	ENSP00000273038:N71K;ENSP00000404624:N12K;ENSP00000404251:N77K;ENSP00000384705:N76K;ENSP00000412923:N71K;ENSP00000394439:N71K;ENSP00000394123:N67K;ENSP00000391932:N71K;ENSP00000391554:N12K;ENSP00000395557:N71K;ENSP00000393100:N12K	ENSP00000273038:N71K	N	-	3	2	VGLL4	11618348	0.000000	0.05858	0.006000	0.13384	0.886000	0.51366	-3.081000	0.00613	-2.224000	0.00725	-0.880000	0.02959	AAC		0.557	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339139.2		NM_014667		20	84	0	0	0	0.001882	0	20	84		
XPC	7508	broad.mit.edu	37	3	14212042	14212042	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:14212042G>T	ENST00000285021.7	-	3	522	c.308C>A	c.(307-309)cCa>cAa	p.P103Q	XPC_ENST00000449060.2_Missense_Mutation_p.P103Q	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	103	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.P103Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTCACTTGGAAAGTCCCT	0.423			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1		NaN	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(307-309)CCA>CAA	NER	xeroderma pigmentosum, complementation group C							235.0	217.0	222.0					3																	14212042		1891	4122	6013	SO:0001583	missense	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14212042G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.308C>A	3.37:g.14212042G>T	ENSP00000285021:p.Pro103Gln					XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.P103Q	p.P103Q	NM_004628	NP_004619	Q01831	XPC_HUMAN			3	412	-			103			Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.308C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649570	0.47362	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.52295	0.67;0.67;0.67	5.65	3.85	0.44370	.	1.555540	0.04354	N	0.356336	T	0.32912	0.0845	L	0.36672	1.1	0.09310	N	1	B;P	0.38335	0.015;0.627	B;B	0.29267	0.01;0.1	T	0.20706	-1.0267	10	0.13470	T	0.59	1.8774	5.655	0.17637	0.1648:0.0:0.679:0.1563	.	103;103	E9PH69;Q01831	.;XPC_HUMAN	Q	103;103;97	ENSP00000285021:P103Q;ENSP00000404002:P103Q;ENSP00000423867:P97Q	ENSP00000285021:P103Q	P	-	2	0	XPC	14187046	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.444000	0.21661	0.726000	0.32339	0.650000	0.86243	CCA		0.423	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		NM_004628		11	178	1	0	0.000151284	0.001855	0.000156915	11	178		
C3orf35	339883	broad.mit.edu	37	3	37458815	37458815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:37458815G>C	ENST00000328376.5	+	5	1037	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	C3orf35_ENST00000425932.1_Missense_Mutation_p.E20Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000426078.1_Missense_Mutation_p.E20Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	20						integral component of membrane (GO:0016021)		p.E20Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCCAGAATTTGAAAATGTGAT	0.398																																						uc003cha.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(58-60)GAA>CAA		AP20 region protein isoform B							98.0	94.0	96.0					3																	37458815		1821	4079	5900	SO:0001583	missense	339883					integral to membrane		g.chr3:37458815G>C	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.58G>C	3.37:g.37458815G>C	ENSP00000331625:p.Glu20Gln					C3orf35_uc003chb.2_Missense_Mutation_p.E20Q	p.E20Q	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN			5	722	+			20					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.58G>C	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817782	0.32145	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55052	0.54	3.84	2.96	0.34315	.	.	.	.	.	T	0.37785	0.1016	N	0.08118	0	0.22226	N	0.999272	D;P	0.54397	0.966;0.899	P;B	0.49252	0.604;0.426	T	0.13818	-1.0495	9	0.87932	D	0	.	7.395	0.26931	0.1187:0.0:0.8813:0.0	.	20;20	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	20	ENSP00000331625:E20Q	ENSP00000331625:E20Q	E	+	1	0	C3orf35	37433819	0.923000	0.31300	0.951000	0.38953	0.687000	0.40016	1.552000	0.36244	1.194000	0.43101	0.563000	0.77884	GAA		0.398	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2		NM_178338		7	116	0	0	0	0.001984	0	7	116		
NKTR	4820	broad.mit.edu	37	3	42679619	42679619	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:42679619C>T	ENST00000232978.8	+	13	2611	c.2423C>T	c.(2422-2424)tCt>tTt	p.S808F	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	808	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S808F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTAGATTATTCTTCAGACAGT	0.408																																						uc003clo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2422-2424)TCT>TTT		natural killer-tumor recognition sequence							90.0	94.0	93.0					3																	42679619		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679619C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2423C>T	3.37:g.42679619C>T	ENSP00000232978:p.Ser808Phe					NKTR_uc003clm.1_Missense_Mutation_p.S555F|NKTR_uc003clp.2_Missense_Mutation_p.S555F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S698F|NKTR_uc003clr.1_Missense_Mutation_p.S555F|NKTR_uc003cls.2_Missense_Mutation_p.S508F	p.S808F	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2570	+			808			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.2423C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254970	0.39896	.	.	ENSG00000114857	ENST00000232978	T	0.16196	2.36	5.58	5.58	0.84498	.	0.173540	0.52532	D	0.000074	T	0.29126	0.0724	M	0.64997	1.995	0.80722	D	1	D;P	0.56521	0.976;0.745	P;B	0.50049	0.629;0.219	T	0.01541	-1.1329	10	0.87932	D	0	-10.934	15.0879	0.72170	0.0:0.8586:0.1414:0.0	.	508;808	Q6M1B8;P30414	.;NKTR_HUMAN	F	808	ENSP00000232978:S808F	ENSP00000232978:S808F	S	+	2	0	NKTR	42654623	0.728000	0.28080	1.000000	0.80357	0.980000	0.70556	1.550000	0.36223	2.627000	0.88993	0.591000	0.81541	TCT		0.408	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		17	78	0	0	0	0.006122	0	17	78		
KIF15	56992	broad.mit.edu	37	3	44846547	44846547	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:44846547G>C	ENST00000326047.4	+	15	1865	c.1716G>C	c.(1714-1716)caG>caC	p.Q572H	KIF15_ENST00000425755.1_Missense_Mutation_p.Q207H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	572					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q572H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTAAAGCTCAGAAAGAGCCAT	0.368																																						uc003cnx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1714-1716)CAG>CAC		kinesin family member 15							68.0	68.0	68.0					3																	44846547		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44846547G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1716G>C	3.37:g.44846547G>C	ENSP00000324020:p.Gln572His					KIF15_uc010hiq.2_Missense_Mutation_p.Q475H|KIF15_uc003cny.1_Missense_Mutation_p.Q207H	p.Q572H	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	15	1865	+			572			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1716G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854762	0.51376	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.79749	-0.37;-1.3;1.91	5.56	-8.15	0.01065	.	1.534960	0.04107	N	0.313942	T	0.56441	0.1985	N	0.08118	0	0.09310	N	1	P;B	0.37525	0.598;0.0	B;B	0.31016	0.123;0.002	T	0.57183	-0.7855	10	0.51188	T	0.08	.	9.0347	0.36280	0.5481:0.2579:0.194:0.0	.	207;572	C9JKA9;Q9NS87	.;KIF15_HUMAN	H	572;344;571;207	ENSP00000324020:Q572H;ENSP00000425499:Q344H;ENSP00000389982:Q207H	ENSP00000324020:Q572H	Q	+	3	2	KIF15	44821551	0.000000	0.05858	0.000000	0.03702	0.928000	0.56348	-0.413000	0.07123	-1.195000	0.02680	0.585000	0.79938	CAG		0.368	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2				15	59	0	0	0	0.004007	0	15	59		
STAB1	23166	broad.mit.edu	37	3	52556921	52556921	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:52556921C>T	ENST00000321725.6	+	62	6951	c.6875C>T	c.(6874-6876)tCa>tTa	p.S2292L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2292	Link. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.S2292L(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGAACCTCTCAGAACGCTGG	0.617																																						uc003dej.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(6874-6876)TCA>TTA		stabilin 1 precursor							83.0	88.0	86.0					3																	52556921		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556921C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6875C>T	3.37:g.52556921C>T	ENSP00000312946:p.Ser2292Leu					STAB1_uc003dek.1_Missense_Mutation_p.S307L|STAB1_uc003del.2_Missense_Mutation_p.S179L	p.S2292L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	62	6949	+			2292			Extracellular (Potential).|Link.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6875C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.835504	0.32421	.	.	ENSG00000010327	ENST00000321725	T	0.33438	1.41	5.75	3.88	0.44766	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.299970	0.32459	N	0.006069	T	0.27027	0.0662	L	0.50993	1.605	0.09310	N	0.999997	P;B	0.40250	0.709;0.288	B;B	0.42593	0.392;0.205	T	0.20140	-1.0284	10	0.51188	T	0.08	.	4.5429	0.12067	0.1403:0.5788:0.1979:0.083	.	179;2292	B3KSK0;Q9NY15	.;STAB1_HUMAN	L	2292	ENSP00000312946:S2292L	ENSP00000312946:S2292L	S	+	2	0	STAB1	52531961	0.287000	0.24315	0.246000	0.24233	0.445000	0.32107	0.966000	0.29331	2.720000	0.93068	0.486000	0.48141	TCA		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		4	46	0	0	0	0.009096	0	4	46		
PTPRG	5793	broad.mit.edu	37	3	62267314	62267314	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:62267314G>A	ENST00000474889.1	+	27	4219	c.3842G>A	c.(3841-3843)aGc>aAc	p.S1281N	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.S1252N|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1281	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1281N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACCCTTATCAGCAAAGACAGA	0.403																																						uc003dlb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(2)	7						c.(3841-3843)AGC>AAC		protein tyrosine phosphatase, receptor type, G							150.0	129.0	136.0					3																	62267314		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62267314G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3842G>A	3.37:g.62267314G>A	ENSP00000418112:p.Ser1281Asn					PTPRG_uc003dlc.2_Missense_Mutation_p.S1252N|PTPRG_uc011bfi.1_Missense_Mutation_p.S527N|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.S1281N	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	27	4561	+			1281			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3842G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458139	0.43634	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.12361	2.69;2.69	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.126962	0.64402	D	0.000001	T	0.10035	0.0246	N	0.04724	-0.175	0.50632	D	0.999884	B;B;B	0.28470	0.0;0.068;0.213	B;B;B	0.33960	0.002;0.122;0.173	T	0.35400	-0.9790	10	0.37606	T	0.19	.	18.6954	0.91599	0.0:0.0:1.0:0.0	.	527;1252;1281	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	N	1281;1252	ENSP00000418112:S1281N;ENSP00000295874:S1252N	ENSP00000295874:S1252N	S	+	2	0	PTPRG	62242354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.587000	0.74071	2.642000	0.89623	0.655000	0.94253	AGC		0.403	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841		4	93	0	0	0	0.009096	0	4	93		
ADAMTS9	56999	broad.mit.edu	37	3	64644236	64644236	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:64644236C>A	ENST00000498707.1	-	4	1253	c.911G>T	c.(910-912)aGa>aTa	p.R304I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304I|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R304I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGAAACCATTCTGTTGTCTGC	0.368																																						uc003dmg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(910-912)AGA>ATA		ADAM metallopeptidase with thrombospondin type 1							143.0	144.0	143.0					3																	64644236		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64644236C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.911G>T	3.37:g.64644236C>A	ENSP00000418735:p.Arg304Ile					ADAMTS9_uc011bfo.1_Missense_Mutation_p.R304I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R133I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R304I	p.R304I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	4	943	-		Lung NSC(201;0.00682)	304			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.911G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682646	0.47991	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	D;T;T	0.87103	-2.21;-0.08;-0.08	6.01	-1.44	0.08856	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.277613	0.40554	N	0.001062	D	0.85784	0.5777	L	0.45422	1.42	0.49299	D	0.999778	P;P;P;P	0.46706	0.716;0.813;0.883;0.708	B;P;P;B	0.53006	0.299;0.715;0.655;0.427	T	0.82733	-0.0311	10	0.87932	D	0	.	11.2986	0.49292	0.0:0.4628:0.0:0.5372	.	304;304;304;304	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	I	304	ENSP00000295903:R304I;ENSP00000418735:R304I;ENSP00000419217:R304I	ENSP00000295903:R304I	R	-	2	0	ADAMTS9	64619276	0.988000	0.35896	0.247000	0.24249	0.928000	0.56348	0.702000	0.25631	-0.644000	0.05465	-0.157000	0.13467	AGA		0.368	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				24	572	1	0	1.96895e-08	0.00278	2.12119e-08	24	572		
ARL6IP5	10550	broad.mit.edu	37	3	69153637	69153637	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:69153637G>A	ENST00000273258.3	+	3	521	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	139	Targeting to endoplasmic reticulum membrane. {ECO:0000250}.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L139L(1)		biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGCATCGTTGAGACTTCGGA	0.443																																						uc003dnr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(415-417)TTG>TTA		ADP-ribosylation-like factor 6 interacting							112.0	106.0	108.0					3																	69153637		2203	4300	6503	SO:0001819	synonymous_variant	10550				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:69153637G>A	AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.417G>A	3.37:g.69153637G>A							p.L139L	NM_006407	NP_006398	O75915	PRAF3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)	3	526	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	139			Cytoplasmic (By similarity).|Targeting to endoplasmic reticulum membrane (By similarity).		B2R6V5|Q53ES3|Q5KU08	Silent	SNP	ENST00000273258.3	37	c.417G>A	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	G	5.850	0.341014	0.11069	.	.	ENSG00000144746	ENST00000412089	.	.	.	5.92	4.1	0.47936	.	.	.	.	.	T	0.71995	0.3406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75806	-0.3188	5	0.87932	D	0	-21.4607	12.229	0.54476	0.0653:0.1192:0.8155:0.0	.	.	.	.	K	126	.	ENSP00000416792:E126K	E	+	1	0	ARL6IP5	69236327	1.000000	0.71417	0.933000	0.37362	0.532000	0.34746	4.333000	0.59285	1.476000	0.48215	0.650000	0.86243	GAG		0.443	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1		NM_006407		23	759	0	0	0	0.00278	0	23	759		
CEP97	79598	broad.mit.edu	37	3	101481386	101481386	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:101481386C>G	ENST00000341893.3	+	10	2627	c.1875C>G	c.(1873-1875)ttC>ttG	p.F625L	CEP97_ENST00000494050.1_Missense_Mutation_p.F566L|CEP97_ENST00000327230.4_Missense_Mutation_p.F625L			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	625	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.F625L(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGAAGCTTTCAGATTCCTTT	0.328																																						uc003dvk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1873-1875)TTC>TTG		centrosomal protein 97kDa							76.0	79.0	78.0					3																	101481386		2202	4298	6500	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101481386C>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1875C>G	3.37:g.101481386C>G	ENSP00000342510:p.Phe625Leu					CEP97_uc011bhf.1_Missense_Mutation_p.F566L|CEP97_uc003dvl.1_Missense_Mutation_p.F321L|CEP97_uc003dvm.1_Missense_Mutation_p.F463L	p.F625L	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			10	1902	+			625			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1875C>G	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329654	0.41297	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.42131	1.08;1.0;0.98	5.41	3.58	0.41010	.	0.169682	0.51477	N	0.000088	T	0.21227	0.0511	N	0.08118	0	0.24888	N	0.992189	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14839	-1.0458	10	0.56958	D	0.05	-1.6239	6.8241	0.23872	0.0:0.579:0.2736:0.1474	.	566;625	E9PG22;Q8IW35	.;CEP97_HUMAN	L	625;625;566	ENSP00000342510:F625L;ENSP00000325881:F625L;ENSP00000418185:F566L	ENSP00000325881:F625L	F	+	3	2	CEP97	102964076	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	0.606000	0.24194	0.628000	0.30357	0.585000	0.79938	TTC		0.328	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2		NM_024548		17	123	0	0	0	0.006122	0	17	123		
CD200	4345	broad.mit.edu	37	3	112054854	112054854	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:112054854A>G	ENST00000473539.1	+	2	134	c.77A>G	c.(76-78)aAt>aGt	p.N26S	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.N26S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				ACCACCATCAATGATTACCAG	0.388																																						uc003dyw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(76-78)AAT>AGT		CD200 antigen isoform b							130.0	135.0	133.0					3																	112054854		2203	4300	6503	SO:0001583	missense	4345				regulation of immune response	integral to plasma membrane		g.chr3:112054854A>G		CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.77A>G	3.37:g.112054854A>G	ENSP00000420298:p.Asn26Ser					CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	p.N26S	NM_001004196	NP_001004196	P41217	OX2G_HUMAN			2	221	+		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)	Error:Variant_position_missing_in_P41217_after_alignment					B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000473539.1	37	c.77A>G	CCDS33818.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.315589	0.23908	.	.	ENSG00000091972	ENST00000473539	T	0.70749	-0.51	1.92	-0.548	0.11833	.	3.298090	0.01141	N	0.006200	T	0.58552	0.2130	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47114	-0.9142	9	0.87932	D	0	8.6688	4.2351	0.10621	0.6078:0.0:0.3922:0.0	.	26	P41217-3	.	S	26	ENSP00000420298:N26S	ENSP00000420298:N26S	N	+	2	0	CD200	113537544	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.683000	0.05179	-0.136000	0.11475	-0.314000	0.08810	AAT		0.388	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1				33	68	0	0	0	0.002836	0	33	68		
TIMMDC1	51300	broad.mit.edu	37	3	119217621	119217621	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:119217621G>A	ENST00000494664.1	+	1	243	c.41G>A	c.(40-42)aGa>aAa	p.R14K	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R14K|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	14						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R14K(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTCTCTGTAGAGCATTGTGC	0.592																																						uc003ecn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(40-42)AGA>AAA		hypothetical protein LOC51300							116.0	124.0	121.0					3																	119217621		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217621G>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.41G>A	3.37:g.119217621G>A	ENSP00000418803:p.Arg14Lys					C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_5'Flank	p.R14K	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	1	254	+			14					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.41G>A	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	6.742	0.505623	0.12822	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.41758	1.59;1.0;0.99	5.0	1.25	0.21368	.	0.696186	0.13700	N	0.368905	T	0.24736	0.0600	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30475	-0.9977	10	0.05833	T	0.94	-1.3464	6.3738	0.21495	0.397:0.0:0.603:0.0	.	14	Q9NPL8	TIDC1_HUMAN	K	14	ENSP00000418803:R14K;ENSP00000419510:R14K;ENSP00000420122:R14K	ENSP00000264244:R14K	R	+	2	0	TIMMDC1	120700311	0.003000	0.15002	0.001000	0.08648	0.046000	0.14306	0.837000	0.27558	0.388000	0.25054	0.650000	0.86243	AGA		0.592	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3		NM_016589		27	196	0	0	0	0.009535	0	27	196		
GOLGB1	2804	broad.mit.edu	37	3	121410632	121410632	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:121410632G>C	ENST00000340645.5	-	14	7689	c.7564C>G	c.(7564-7566)Ctc>Gtc	p.L2522V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L2527V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2522					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L2522V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGAATTGAGATCATCCATA	0.393																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(7564-7566)CTC>GTC		golgi autoantigen, golgin subfamily b,							161.0	168.0	165.0					3																	121410632		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410632G>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7564C>G	3.37:g.121410632G>C	ENSP00000341848:p.Leu2522Val					GOLGB1_uc010hrc.2_Missense_Mutation_p.L2527V|GOLGB1_uc003eej.3_Missense_Mutation_p.L2488V	p.L2522V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7690	-			2522			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7564C>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	9.084	0.999944	0.19121	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.46819	0.86;0.86	5.55	4.65	0.58169	.	0.114641	0.39407	N	0.001364	T	0.56587	0.1995	M	0.76328	2.33	0.53005	D	0.99996	P;D;D	0.60575	0.952;0.988;0.96	B;P;P	0.50754	0.341;0.649;0.483	T	0.58171	-0.7683	10	0.38643	T	0.18	.	13.5821	0.61909	0.0:0.0:0.8444:0.1556	.	2527;2527;2522	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2522;2527	ENSP00000341848:L2522V;ENSP00000377275:L2527V	ENSP00000341848:L2522V	L	-	1	0	GOLGB1	122893322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.890000	0.56220	2.601000	0.87937	0.563000	0.77884	CTC		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		9	357	0	0	0	0.004482	0	9	357		
MYLK	4638	broad.mit.edu	37	3	123452592	123452592	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:123452592C>G	ENST00000475616.1	-	7	1250	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	MYLK_ENST00000360772.3_Missense_Mutation_p.E417D|MYLK_ENST00000346322.5_Missense_Mutation_p.E417D|MYLK_ENST00000359169.1_Missense_Mutation_p.E417D|MYLK_ENST00000360304.3_Missense_Mutation_p.E417D			Q15746	MYLK_HUMAN	myosin light chain kinase	417	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E417D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGGGCTTGCTCTCAAATTTGG	0.517																																						uc003ego.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(2)|stomach(1)	9						c.(1249-1251)GAG>GAC		myosin light chain kinase isoform 1							162.0	163.0	162.0					3																	123452592		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452592C>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1251G>C	3.37:g.123452592C>G	ENSP00000418335:p.Glu417Asp					MYLK_uc011bjw.1_Missense_Mutation_p.E417D|MYLK_uc003egp.2_Missense_Mutation_p.E417D|MYLK_uc003egq.2_Missense_Mutation_p.E417D|MYLK_uc003egr.2_Missense_Mutation_p.E417D|MYLK_uc003egs.2_Missense_Mutation_p.E241D	p.E417D	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1533	-		Lung NSC(201;0.0496)	417			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1251G>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615726	0.28801	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67865	1.05;1.05;1.05;-0.29;1.05	5.43	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66336	0.2779	L	0.45228	1.405	0.58432	D	0.999997	D;B;D;B;D	0.67145	0.995;0.002;0.995;0.001;0.996	P;B;P;B;D	0.64321	0.876;0.004;0.876;0.003;0.924	T	0.62826	-0.6772	9	0.12766	T	0.61	.	5.6702	0.17717	0.0:0.6693:0.162:0.1687	.	417;417;417;417;417	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	D	417	ENSP00000354004:E417D;ENSP00000353452:E417D;ENSP00000352088:E417D;ENSP00000320622:E417D;ENSP00000418335:E417D	ENSP00000320622:E417D	E	-	3	2	MYLK	124935282	0.910000	0.30920	1.000000	0.80357	0.994000	0.84299	0.369000	0.20416	0.837000	0.34925	0.655000	0.94253	GAG		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		12	143	0	0	0	0.001368	0	12	143		
KALRN	8997	broad.mit.edu	37	3	124413264	124413264	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:124413264G>A	ENST00000291478.5	+	20	2563	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	KALRN_ENST00000428018.2_Silent_p.R768R|KALRN_ENST00000360013.3_Silent_p.R2497R|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2496					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R2497R(1)|p.R800R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTGGGCGGCCAAAGCCCA	0.532																																						uc003ehg.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7489-7491)CGG>CGA		kalirin, RhoGEF kinase isoform 1							156.0	139.0	145.0					3																	124413264		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124413264G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2400G>A	3.37:g.124413264G>A						KALRN_uc003ehk.2_Silent_p.R800R	p.R2497R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			53	7618	+			2496			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.7491G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331165	0.24167	.	.	ENSG00000160145	ENST00000354186	.	.	.	6.07	2.17	0.27698	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48875	-0.8996	4	.	.	.	.	7.083	0.25241	0.1468:0.2868:0.5664:0.0	.	.	.	.	D	2466	.	.	G	+	2	0	KALRN	125895954	0.017000	0.18338	0.995000	0.50966	0.986000	0.74619	-0.771000	0.04699	0.842000	0.35045	0.655000	0.94253	GGC		0.532	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947		4	117	0	0	0	0.009096	0	4	117		
ZBTB38	253461	broad.mit.edu	37	3	141162247	141162247	+	Silent	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:141162247T>G	ENST00000514251.1	+	4	1296	c.1017T>G	c.(1015-1017)ccT>ccG	p.P339P	ZBTB38_ENST00000321464.5_Silent_p.P340P|ZBTB38_ENST00000441582.2_Silent_p.P339P					zinc finger and BTB domain containing 38									p.P339P(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGGTTCCACCTCTGGTGTACA	0.498																																						uc003etw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1015-1017)CCT>CCG		zinc finger and BTB domain containing 38							81.0	82.0	81.0					3																	141162247		1907	4132	6039	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162247T>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1017T>G	3.37:g.141162247T>G						ZBTB38_uc010hun.2_Silent_p.P336P|ZBTB38_uc010huo.2_Silent_p.P339P|ZBTB38_uc003ety.2_Silent_p.P339P|ZBTB38_uc010hup.2_Silent_p.P340P	p.P339P	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	1999	+			339						Silent	SNP	ENST00000514251.1	37	c.1017T>G	CCDS43157.1																																																																																				0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				7	137	0	0	0	0.004482	0	7	137		
GMPS	8833	broad.mit.edu	37	3	155632331	155632331	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:155632331G>C	ENST00000496455.2	+	8	1345	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	GMPS_ENST00000295920.7_Missense_Mutation_p.R238T	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	337	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.R337T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GAAGAGAAAAGAAAAATCATT	0.328			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NaN		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(1009-1011)AGA>ACA		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						89.0	86.0	87.0					3																	155632331		1798	4066	5864	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155632331G>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1010G>C	3.37:g.155632331G>C	ENSP00000419851:p.Arg337Thr					GMPS_uc011bom.1_Missense_Mutation_p.R238T	p.R337T	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		8	1345	+			337					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.1010G>C	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174365	0.94807	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.88	5.88	0.94601	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.050949	0.85682	D	0.000000	D	0.91546	0.7330	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94300	0.7536	9	0.87932	D	0	-20.2632	20.2187	0.98312	0.0:0.0:1.0:0.0	.	238;337	F8W720;P49915	.;GUAA_HUMAN	T	337;238;286;337	.	ENSP00000295920:R238T	R	+	2	0	GMPS	157115025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.780000	0.95670	0.655000	0.94253	AGA		0.328	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2				8	92	0	0	0	0.006214	0	8	92		
KCNAB1	7881	broad.mit.edu	37	3	156232888	156232888	+	Splice_Site	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:156232888G>T	ENST00000490337.1	+	10	808		c.e10-1		KCNAB1_ENST00000389636.5_Splice_Site|KCNAB1_ENST00000497291.1_Splice_Site|KCNAB1_ENST00000302490.8_Splice_Site|KCNAB1_ENST00000471742.1_Splice_Site|KCNAB1_ENST00000389634.5_Splice_Site	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.?(3)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCTCCCTAGGAAGCCTATT	0.413																																						uc003far.2		NaN																	3	Unknown(3)		urinary_tract(3)	ovary(3)|skin(1)	4						c.e10-1		potassium voltage-gated channel, shaker-related							76.0	76.0	76.0					3																	156232888		2203	4298	6501	SO:0001630	splice_region_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156232888G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.745-1G>T	3.37:g.156232888G>T						KCNAB1_uc011bon.1_Splice_Site_p.E220_splice|KCNAB1_uc003fas.2_Splice_Site_p.E238_splice|KCNAB1_uc003fat.2_Splice_Site_p.E231_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E202_splice|KCNAB1_uc011boo.1_Splice_Site_p.E125_splice	p.E249_splice	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	809	+								A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Splice_Site	SNP	ENST00000490337.1	37	c.745_splice	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469042	0.84533	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7355	0.88391	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNAB1	157715582	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.410000	0.97335	2.480000	0.83734	0.655000	0.94253	.		0.413	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1		NM_003471	Intron	11	127	1	0	1.33987e-11	0.008291	1.47775e-11	11	127		
SKIL	6498	broad.mit.edu	37	3	170078501	170078501	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:170078501C>G	ENST00000458537.3	+	1	1091	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	SKIL_ENST00000413427.2_Missense_Mutation_p.Q128E|SKIL_ENST00000426052.2_Missense_Mutation_p.Q108E|SKIL_ENST00000259119.4_Missense_Mutation_p.Q128E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	128					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.Q128E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCCATCACCTCAGGTTCTTCC	0.488																																						uc003fgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(382-384)CAG>GAG		SKI-like isoform 1							185.0	192.0	190.0					3																	170078501		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078501C>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.382C>G	3.37:g.170078501C>G	ENSP00000415243:p.Gln128Glu					SKIL_uc011bps.1_Missense_Mutation_p.Q108E|SKIL_uc003fgv.2_Missense_Mutation_p.Q128E|SKIL_uc003fgw.2_Missense_Mutation_p.Q128E	p.Q128E	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	1094	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		128					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.382C>G	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	5.769	0.326337	0.10900	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.28	5.28	0.74379	Transforming protein Ski (1);	0.053617	0.85682	D	0.000000	T	0.78220	0.4249	L	0.29908	0.895	0.42829	D	0.994013	P;P	0.36712	0.459;0.566	B;B	0.43990	0.16;0.438	T	0.73325	-0.4018	10	0.05525	T	0.97	-11.9177	18.9691	0.92708	0.0:1.0:0.0:0.0	.	128;128	P12757-3;P12757	.;SKIL_HUMAN	E	128;108;128;128	ENSP00000259119:Q128E;ENSP00000406520:Q108E;ENSP00000400193:Q128E;ENSP00000415243:Q128E	ENSP00000259119:Q128E	Q	+	1	0	SKIL	171561195	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	4.622000	0.61240	2.495000	0.84180	0.478000	0.44815	CAG		0.488	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414		27	353	0	0	0	0.005443	0	27	353		
MCF2L2	23101	broad.mit.edu	37	3	183013209	183013209	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:183013209C>G	ENST00000328913.3	-	13	1851	c.1554G>C	c.(1552-1554)aaG>aaC	p.K518N	MCF2L2_ENST00000447025.2_Missense_Mutation_p.K518N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K518N|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K518N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	518							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K518N(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCACTTGCCTCTTGTGAAATA	0.458																																						uc003fli.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1552-1554)AAG>AAC		Rho family guanine-nucleotide exchange factor							167.0	141.0	150.0					3																	183013209		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183013209C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1554G>C	3.37:g.183013209C>G	ENSP00000328118:p.Lys518Asn					MCF2L2_uc003flj.1_Missense_Mutation_p.K518N|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron|uc003flo.2_5'Flank	p.K518N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		13	1644	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		518					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1554G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948547	0.34377	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.06371	4.49;4.5;3.62;3.31	4.82	2.87	0.33458	.	0.058024	0.64402	D	0.000002	T	0.13372	0.0324	L	0.50333	1.59	0.80722	D	1	P;D	0.76494	0.545;0.999	B;D	0.66084	0.172;0.941	T	0.17349	-1.0372	10	0.11182	T	0.66	.	10.0872	0.42425	0.0:0.8233:0.0:0.1767	.	518;518	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	N	518;518;518;54;518	ENSP00000328118:K518N;ENSP00000420070:K518N;ENSP00000388190:K518N;ENSP00000414131:K518N	ENSP00000328118:K518N	K	-	3	2	MCF2L2	184495903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.588000	0.36633	0.583000	0.29574	0.650000	0.86243	AAG		0.458	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078		4	99	0	0	0	0.000602	0	4	99		
MAGEF1	64110	broad.mit.edu	37	3	184429334	184429334	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:184429334C>T	ENST00000317897.3	-	1	502	c.276G>A	c.(274-276)aaG>aaA	p.K92K		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	92	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)		p.K92K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACTCTTCTTCTTGTCTTTCA	0.582																																						uc003fpa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(274-276)AAG>AAA		melanoma antigen family F, 1							123.0	129.0	127.0					3																	184429334		2203	4300	6503	SO:0001819	synonymous_variant	64110							g.chr3:184429334C>T	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.276G>A	3.37:g.184429334C>T							p.K92K	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	503	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		92			MAGE.		Q9H215	Silent	SNP	ENST00000317897.3	37	c.276G>A	CCDS3269.1																																																																																				0.582	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1		NM_022149		5	176	0	0	0	0.001168	0	5	176		
ATP13A5	344905	broad.mit.edu	37	3	193029620	193029620	+	Silent	SNP	G	G	A	rs112958471		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:193029620G>A	ENST00000342358.4	-	20	2547	c.2430C>T	c.(2428-2430)aaC>aaT	p.N810N	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	810						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.N810N(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGCAAGCTGTTGAAATGCT	0.423																																						uc011bsq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(2428-2430)AAC>AAT		ATPase type 13A5							111.0	101.0	104.0					3																	193029620		2203	4300	6503	SO:0001819	synonymous_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193029620G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2430C>T	3.37:g.193029620G>A							p.N810N	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	20	2430	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		810					Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	c.2430C>T	CCDS33914.1																																																																																				0.423	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		NM_198505		13	79	0	0	0	0.001855	0	13	79		
ATP13A3	79572	broad.mit.edu	37	3	194176633	194176633	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr3:194176633G>C	ENST00000439040.1	-	8	1410	c.619C>G	c.(619-621)Cta>Gta	p.L207V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L207V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	207						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L207V(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTTTAATTAGAAGCTTAAAA	0.274																																						uc003fty.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(619-621)CTA>GTA		ATPase type 13A3							80.0	87.0	85.0					3																	194176633		1810	4055	5865	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194176633G>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.619C>G	3.37:g.194176633G>C	ENSP00000416508:p.Leu207Val						p.L207V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	7	1021	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	207			Helical; (Potential).		Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.619C>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607507	0.66558	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	T;T	0.80824	-1.42;-1.42	5.56	4.69	0.59074	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.89329	0.6684	M	0.85373	2.75	0.58432	D	0.999999	D	0.65815	0.995	D	0.70935	0.971	D	0.90164	0.4230	10	0.66056	D	0.02	-7.4702	11.4828	0.50335	0.1446:0.0:0.8554:0.0	.	207	Q9H7F0	AT133_HUMAN	V	207	ENSP00000416508:L207V;ENSP00000256031:L207V	ENSP00000256031:L207V	L	-	1	2	ATP13A3	195657922	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.736000	0.74811	1.352000	0.45808	-0.251000	0.11542	CTA		0.274	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524		7	197	0	0	0	0.004482	0	7	197		
WFS1	7466	broad.mit.edu	37	4	6303952	6303952	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:6303952C>A	ENST00000226760.1	+	8	2600	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L	WFS1_ENST00000503569.1_Missense_Mutation_p.F810L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	810					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.F810L(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCAGCGAGTTCAAGAGCGTGC	0.662																																						uc003giy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(2428-2430)TTC>TTA		wolframin							42.0	46.0	44.0					4																	6303952		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303952C>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2430C>A	4.37:g.6303952C>A	ENSP00000226760:p.Phe810Leu					WFS1_uc003gix.2_Missense_Mutation_p.F810L|WFS1_uc003giz.2_Missense_Mutation_p.F628L	p.F810L	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2596	+			810					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2430C>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125578	0.77436	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.94931	-3.56;-3.56	5.59	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	L	0.32530	0.975	0.58432	D	0.999997	D	0.71674	0.998	D	0.69479	0.964	D	0.94188	0.7438	10	0.87932	D	0	-52.985	11.0615	0.47950	0.0:0.8571:0.0:0.1429	.	810	O76024	WFS1_HUMAN	L	810;810;188	ENSP00000423337:F810L;ENSP00000226760:F810L	ENSP00000226760:F810L	F	+	3	2	WFS1	6354853	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	2.714000	0.47202	2.636000	0.89361	0.561000	0.74099	TTC		0.662	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1				4	18	1	0	0.00909568	0.009096	0.00918356	4	18		
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(2323-2325)CGG>TGG		ADAM metallopeptidase with thrombospondin type 1							206.0	205.0	205.0					4																	73169735		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169735G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2323C>T	4.37:g.73169735G>A	ENSP00000286657:p.Arg775Trp					ADAMTS3_uc003hgl.2_Missense_Mutation_p.R116W	p.R775W	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2360	-			775			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2323C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534517	0.64972	.	.	ENSG00000156140	ENST00000286657	T	0.54675	0.56	5.57	1.66	0.24008	ADAM-TS Spacer 1 (1);	0.157146	0.41823	D	0.000807	T	0.67069	0.2854	M	0.67700	2.07	0.30719	N	0.748409	D	0.61697	0.99	D	0.63597	0.916	T	0.71570	-0.4553	10	0.66056	D	0.02	.	15.0957	0.72232	0.0:0.0:0.4863:0.5137	.	775	O15072	ATS3_HUMAN	W	775	ENSP00000286657:R775W	ENSP00000286657:R775W	R	-	1	2	ADAMTS3	73388599	0.248000	0.23930	0.033000	0.17914	0.915000	0.54546	1.548000	0.36201	-0.011000	0.14247	-0.182000	0.12963	CGG		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				92	161	0	0	0	0.00361	0	92	161		
AFF1	4299	broad.mit.edu	37	4	88012958	88012958	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:88012958T>A	ENST00000307808.6	+	6	1604	c.1184T>A	c.(1183-1185)gTc>gAc	p.V395D	AFF1_ENST00000544085.1_Missense_Mutation_p.V33D|AFF1_ENST00000395146.4_Missense_Mutation_p.V402D	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	395					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V402D(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCTCAGCATGTCAGTTCTGTA	0.284																																						uc003hqj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1183-1185)GTC>GAC		myeloid/lymphoid or mixed-lineage leukemia							34.0	35.0	34.0					4																	88012958		2199	4294	6493	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88012958T>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1184T>A	4.37:g.88012958T>A	ENSP00000305689:p.Val395Asp					AFF1_uc003hqh.1_Missense_Mutation_p.V401D|AFF1_uc011ccy.1_Missense_Mutation_p.V373D|AFF1_uc011ccz.1_Missense_Mutation_p.V402D|AFF1_uc003hqk.3_Missense_Mutation_p.V395D|AFF1_uc011cda.1_Missense_Mutation_p.V33D	p.V395D	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	6	1591	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	395					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1184T>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	9.542	1.113658	0.20795	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000541943;ENST00000507468;ENST00000503477;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.75	4.75	0.60458	.	0.553031	0.18211	N	0.148169	T	0.70439	0.3224	L	0.42245	1.32	0.19300	N	0.999978	D;D;D;D;D	0.71674	0.998;0.963;0.984;0.998;0.994	D;P;P;D;P	0.71414	0.959;0.583;0.841;0.973;0.903	T	0.58792	-0.7574	10	0.11794	T	0.64	-7.6823	10.2862	0.43568	0.0:0.0:0.1655:0.8345	.	402;373;395;395;402	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	D	402;373;56;401;373;395;33;33;86	ENSP00000378578:V402D;ENSP00000427593:V401D;ENSP00000424483:V373D;ENSP00000305689:V395D;ENSP00000424766:V33D;ENSP00000440843:V33D;ENSP00000424881:V86D	ENSP00000305689:V395D	V	+	2	0	AFF1	88231982	0.008000	0.16893	0.495000	0.27527	0.454000	0.32378	1.474000	0.35398	2.117000	0.64856	0.460000	0.39030	GTC		0.284	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		6	9	0	0	0	0.001168	0	6	9		
SYNPO2	171024	broad.mit.edu	37	4	119979019	119979019	+	Missense_Mutation	SNP	C	C	G	rs201943965		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:119979019C>G	ENST00000307142.4	+	5	3912	c.3716C>G	c.(3715-3717)tCt>tGt	p.S1239C	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.S1239C(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACCAGGTCTGATTACTGT	0.443																																						uc010inb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(3715-3717)TCT>TGT		synaptopodin 2 isoform a							77.0	73.0	74.0					4																	119979019		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119979019C>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3716C>G	4.37:g.119979019C>G	ENSP00000306015:p.Ser1239Cys					SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.S1109C	p.S1239C	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN			5	3912	+			Error:Variant_position_missing_in_Q9UMS6_after_alignment					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3716C>G	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494621	0.85069	.	.	ENSG00000172403	ENST00000307142	T	0.12774	2.65	5.76	5.76	0.90799	.	0.000000	0.42682	D	0.000678	T	0.28333	0.0700	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00872	-1.1532	9	.	.	.	-16.578	19.9576	0.97228	0.0:1.0:0.0:0.0	.	1239;1239	B9EG60;Q9UMS6-2	.;.	C	1239	ENSP00000306015:S1239C	.	S	+	2	0	SYNPO2	120198467	1.000000	0.71417	0.990000	0.47175	0.920000	0.55202	5.742000	0.68646	2.736000	0.93811	0.655000	0.94253	TCT		0.443	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1				6	58	0	0	0	0.001168	0	6	58		
ZNF827	152485	broad.mit.edu	37	4	146686170	146686170	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:146686170T>G	ENST00000508784.1	-	13	3427	c.3200A>C	c.(3199-3201)aAa>aCa	p.K1067T	ZNF827_ENST00000513320.1_Missense_Mutation_p.K717T|ZNF827_ENST00000379448.4_Missense_Mutation_p.K1067T			Q17R98	ZN827_HUMAN	zinc finger protein 827	1067					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1067T(2)		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)					AGTGTGGCATTTCTTATGCTC	0.498																																						uc003ikn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(3199-3201)AAA>ACA		zinc finger protein 827							129.0	128.0	128.0					4																	146686170		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686170T>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.3200A>C	4.37:g.146686170T>G	ENSP00000421863:p.Lys1067Thr					ZNF827_uc003ikm.2_Missense_Mutation_p.K1067T|ZNF827_uc010iox.2_Missense_Mutation_p.K717T|ZNF827_uc003ikl.2_Missense_Mutation_p.K152T	p.K1067T	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			13	3248	-	all_hematologic(180;0.151)		1067			C2H2-type 9.		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3200A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.395385|4.395385	0.83011|0.83011	.|.	.|.	ENSG00000151612|ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000503462;ENST00000440280|ENST00000511659	T;T;T;T|.	0.08807|.	3.12;3.05;3.15;3.12|.	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	0.57272|0.57272	0.2042|0.2042	L|L	0.38531|0.38531	1.155|1.155	0.52099|0.52099	D|D	0.999948|0.999948	D;D;D;D|.	0.76494|.	0.999;0.998;0.999;0.998|.	D;D;D;D|.	0.80764|.	0.994;0.987;0.994;0.987|.	T|T	0.54689|0.54689	-0.8256|-0.8256	10|5	0.72032|.	D|.	0.01|.	-12.8425|-12.8425	14.7219|14.7219	0.69314|0.69314	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	717;1067;1067;717|.	G5E9Z1;Q17R98;Q17R98-2;E7ESI8|.	.;ZN827_HUMAN;.;.|.	T|H	1067;717;1067;1066;13;717|168	ENSP00000421863:K1067T;ENSP00000423130:K717T;ENSP00000368761:K1067T;ENSP00000424541:K13T|.	ENSP00000281318:K1066T|.	K|N	-|-	2|1	0|0	ZNF827|ZNF827	146905620|146905620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.655000|7.655000	0.83696|0.83696	1.920000|1.920000	0.55613|0.55613	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2		NM_178835		5	133	0	0	0	0.001984	0	5	133		
NPY2R	4887	broad.mit.edu	37	4	156136153	156136153	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:156136153C>A	ENST00000329476.3	+	2	1551	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S	NPY2R_ENST00000506608.1_Silent_p.S354S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.S354S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CTGAGGTGTCCGTGACATTCA	0.507																																						uc003ioq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(1)	3						c.(1060-1062)TCC>TCA		neuropeptide Y receptor Y2							93.0	94.0	94.0					4																	156136153		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136153C>A	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.1062C>A	4.37:g.156136153C>A						NPY2R_uc003ior.2_Silent_p.S354S	p.S354S	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1557	+	all_hematologic(180;0.24)	Renal(120;0.0854)	354			Cytoplasmic (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.1062C>A	CCDS3791.1																																																																																				0.507	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1		NM_000910		18	75	1	0	1.33834e-09	0.007413	1.44929e-09	18	75		
NEIL3	55247	broad.mit.edu	37	4	178281777	178281777	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr4:178281777C>T	ENST00000264596.3	+	9	1699	c.1581C>T	c.(1579-1581)ggC>ggT	p.G527G		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	527					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.G527G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAAACAAGGGCAGGCAGTTTT	0.443								Base excision repair (BER), DNA glycosylases																														uc003iut.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1579-1581)GGC>GGT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							94.0	91.0	92.0					4																	178281777		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178281777C>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1581C>T	4.37:g.178281777C>T							p.G527G	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	9	1698	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	527					Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.1581C>T	CCDS3828.1																																																																																				0.443	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1		NM_018248		6	102	0	0	0	0.001168	0	6	102		
EXOC3	11336	broad.mit.edu	37	5	462321	462321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:462321G>T	ENST00000512944.1	+	9	1741	c.1552G>T	c.(1552-1554)Gag>Tag	p.E518*	EXOC3_ENST00000315013.5_Nonsense_Mutation_p.E518*	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	529					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.E518*(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAGTGGAAGAGGGTGTGTC	0.547																																						uc003jba.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1552-1554)GAG>TAG		Sec6 protein							86.0	91.0	90.0					5																	462321		1954	4122	6076	SO:0001587	stop_gained	11336				exocytosis|protein transport			g.chr5:462321G>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1552G>T	5.37:g.462321G>T	ENSP00000425587:p.Glu518*						p.E518*	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		9	1680	+		Ovarian(839;0.0563)	529					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Nonsense_Mutation	SNP	ENST00000512944.1	37	c.1552G>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749288	0.69533	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	.	.	.	5.33	5.33	0.75918	.	0.388897	0.28724	N	0.014356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.6752	11.606	0.51033	0.0:0.0:0.8221:0.1778	.	.	.	.	X	518;518;413	.	ENSP00000323377:E518X	E	+	1	0	EXOC3	515321	1.000000	0.71417	0.217000	0.23759	0.061000	0.15899	3.417000	0.52714	2.504000	0.84457	0.563000	0.77884	GAG		0.547	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1		NM_007277		12	249	1	0	1.61879e-10	0.001368	1.77135e-10	12	249		
SLC9A3	6550	broad.mit.edu	37	5	476396	476396	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:476396G>T	ENST00000264938.3	-	13	1997	c.1988C>A	c.(1987-1989)tCc>tAc	p.S663Y	SLC9A3_ENST00000514375.1_Missense_Mutation_p.S654Y|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	663	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.S663Y(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGACTTGAAGGACTCCAGGCG	0.602																																						uc003jbe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1987-1989)TCC>TAC		solute carrier family 9 (sodium/hydrogen							92.0	89.0	90.0					5																	476396		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476396G>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1988C>A	5.37:g.476396G>T	ENSP00000264938:p.Ser663Tyr					SLC9A3_uc011clx.1_Missense_Mutation_p.S654Y|uc011cly.1_5'Flank	p.S663Y	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2100	-			663			Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1988C>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450603	0.63290	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.80033	-1.33;-1.33	4.75	4.75	0.60458	.	0.308695	0.36972	N	0.002302	D	0.88629	0.6488	M	0.74881	2.28	0.53688	D	0.999979	D;D	0.89917	1.0;0.989	D;P	0.68621	0.959;0.726	D	0.90246	0.4290	10	0.87932	D	0	.	15.5086	0.75760	0.0:0.0:1.0:0.0	.	654;663	E9PF67;P48764	.;SL9A3_HUMAN	Y	663;654	ENSP00000264938:S663Y;ENSP00000422983:S654Y	ENSP00000264938:S663Y	S	-	2	0	SLC9A3	529396	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.730000	0.91510	2.178000	0.69098	0.467000	0.42956	TCC		0.602	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174		9	240	1	0	2.17888e-05	0.006214	2.27693e-05	9	240		
CDH6	1004	broad.mit.edu	37	5	31317512	31317512	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:31317512G>C	ENST00000265071.2	+	10	1808	c.1543G>C	c.(1543-1545)Gat>Cat	p.D515H	CDH6_ENST00000514738.1_Missense_Mutation_p.D460H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D515H(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTGACAAGGATGACCCTTA	0.398																																						uc003jhe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1543-1545)GAT>CAT		cadherin 6, type 2 preproprotein							97.0	90.0	92.0					5																	31317512		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317512G>C	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1543G>C	5.37:g.31317512G>C	ENSP00000265071:p.Asp515His					CDH6_uc003jhd.1_Missense_Mutation_p.D515H	p.D515H	NM_004932	NP_004923	P55285	CADH6_HUMAN			10	1869	+			515			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1543G>C	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411184	0.83340	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.74632	-0.86;-0.86	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.094899	0.64402	D	0.000001	D	0.92208	0.7529	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.95302	0.8404	10	0.87932	D	0	.	18.3208	0.90238	0.0:0.0:1.0:0.0	.	515;515	P55285;P55285-2	CADH6_HUMAN;.	H	460;515	ENSP00000424843:D460H;ENSP00000265071:D515H	ENSP00000265071:D515H	D	+	1	0	CDH6	31353269	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	9.166000	0.94766	2.621000	0.88768	0.650000	0.86243	GAT		0.398	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		20	246	0	0	0	0.002299	0	20	246		
SPEF2	79925	broad.mit.edu	37	5	35753786	35753786	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35753786C>T	ENST00000356031.3	+	24	3545	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.R1126W	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1131					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R1131W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGCAGGAGCGGCTTGACAT	0.483																																						uc003jjo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3391-3393)CGG>TGG		KPL2 protein isoform 1							127.0	133.0	131.0					5																	35753786		1932	4147	6079	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35753786C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3391C>T	5.37:g.35753786C>T	ENSP00000348314:p.Arg1131Trp					SPEF2_uc003jjp.1_Missense_Mutation_p.R617W	p.R1131W	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		24	3502	+	all_lung(31;7.56e-05)		1131					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3391C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371699	0.61624	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.36157	1.27;1.27	5.35	2.13	0.27403	.	0.204001	0.42172	D	0.000751	T	0.57431	0.2053	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.912	T	0.55464	-0.8137	10	0.87932	D	0	.	6.3935	0.21599	0.143:0.6742:0.0:0.1828	.	1126;1131	Q9C093-2;Q9C093	.;SPEF2_HUMAN	W	1131;1126	ENSP00000348314:R1131W;ENSP00000412125:R1126W	ENSP00000348314:R1131W	R	+	1	2	SPEF2	35789543	1.000000	0.71417	0.971000	0.41717	0.727000	0.41649	0.694000	0.25512	0.169000	0.19679	0.491000	0.48974	CGG		0.483	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722		10	377	0	0	0	0.003163	0	10	377		
CAPSL	133690	broad.mit.edu	37	5	35910144	35910144	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:35910144T>A	ENST00000397367.2	-	4	475	c.349A>T	c.(349-351)Atg>Ttg	p.M117L	CAPSL_ENST00000514524.1_Missense_Mutation_p.M117L|CAPSL_ENST00000397366.1_Missense_Mutation_p.M117L	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	117	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.M117L(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AAAGCTTGCATGATTACCTCT	0.373																																						uc003jjt.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(349-351)ATG>TTG		calcyphosine-like							120.0	117.0	118.0					5																	35910144		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910144T>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.349A>T	5.37:g.35910144T>A	ENSP00000380524:p.Met117Leu					CAPSL_uc003jju.1_Missense_Mutation_p.M117L	p.M117L	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	444	-	all_lung(31;0.000268)		117			EF-hand 3.			Missense_Mutation	SNP	ENST00000397367.2	37	c.349A>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904521	0.33628	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.28	5.72	4.53	0.55603	EF-hand-like domain (1);	0.114978	0.85682	N	0.000000	T	0.33847	0.0877	N	0.01284	-0.91	0.40417	D	0.979802	B	0.02656	0.0	B	0.01281	0.0	T	0.10154	-1.0642	10	0.25751	T	0.34	-20.6265	7.6195	0.28177	0.1312:0.0:0.2696:0.5991	.	117	Q8WWF8	CAPSL_HUMAN	L	117	ENSP00000380524:M117L;ENSP00000380523:M117L;ENSP00000424806:M117L;ENSP00000421018:M117L	ENSP00000380523:M117L	M	-	1	0	CAPSL	35945901	0.831000	0.29352	0.983000	0.44433	0.982000	0.71751	1.013000	0.29937	0.960000	0.38005	0.374000	0.22700	ATG		0.373	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2		NM_144647		21	290	0	0	0	0.001882	0	21	290		
PAIP1	10605	broad.mit.edu	37	5	43547975	43547975	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:43547975G>C	ENST00000306846.3	-	3	708	c.476C>G	c.(475-477)tCa>tGa	p.S159*	PAIP1_ENST00000514514.1_Nonsense_Mutation_p.S80*|PAIP1_ENST00000338972.4_Nonsense_Mutation_p.S47*|PAIP1_ENST00000436644.2_Nonsense_Mutation_p.S80*	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	159	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S159*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACATATTCTGATAGAGTAGG	0.368																																						uc003job.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(475-477)TCA>TGA		poly(A) binding protein interacting protein 1							70.0	69.0	69.0					5																	43547975		2203	4300	6503	SO:0001587	stop_gained	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43547975G>C	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.476C>G	5.37:g.43547975G>C	ENSP00000302768:p.Ser159*					PAIP1_uc003joa.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivp.2_Nonsense_Mutation_p.S80*|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Nonsense_Mutation_p.S47*	p.S159*	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	723	-	Lung NSC(6;2.07e-05)		159			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Nonsense_Mutation	SNP	ENST00000306846.3	37	c.476C>G	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124530	0.77436	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	.	.	.	5.59	4.69	0.59074	.	0.192138	0.44285	D	0.000477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-2.9878	16.5651	0.84577	0.0:0.13:0.87:0.0	.	.	.	.	X	159;80;47;80;47;47;47	.	ENSP00000302768:S159X	S	-	2	0	PAIP1	43583732	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	6.332000	0.72934	2.628000	0.89032	0.655000	0.94253	TCA		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		14	175	0	0	0	0.003163	0	14	175		
BDP1	55814	broad.mit.edu	37	5	70786810	70786810	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:70786810G>C	ENST00000358731.4	+	11	1755		c.e11-1		BDP1_ENST00000380675.2_Splice_Site	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTATTTGTAGATAAATGTCA	0.363																																						uc003kbp.1		NaN																	1	Unknown(1)		urinary_tract(1)	skin(2)	2						c.e11-1		transcription factor-like nuclear regulator							69.0	63.0	65.0					5																	70786810		1868	4102	5970	SO:0001630	splice_region_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70786810G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1493-1G>C	5.37:g.70786810G>C						BDP1_uc003kbn.1_Splice_Site_p.N498_splice|BDP1_uc003kbo.2_Splice_Site_p.N498_splice	p.N498_splice	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	11	1756	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)						Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Splice_Site	SNP	ENST00000358731.4	37	c.1493_splice	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653600	0.14580	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3102	0.66410	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BDP1	70822566	0.998000	0.40836	0.231000	0.23993	0.023000	0.10783	4.092000	0.57707	2.751000	0.94390	0.650000	0.86243	.		0.363	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429	Intron	12	42	0	0	0	0.001368	0	12	42		
PCSK1	5122	broad.mit.edu	37	5	95743998	95743998	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:95743998C>G	ENST00000311106.3	-	9	1362	c.1125G>C	c.(1123-1125)acG>acC	p.T375T	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.T328T	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	375	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.T375T(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTGCGTCTCCGTGCAGTCAT	0.577																																						uc003kls.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1123-1125)ACG>ACC		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77.0	60.0	66.0					5																	95743998		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95743998C>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1125G>C	5.37:g.95743998C>G						PCSK1_uc010jbi.1_Silent_p.T65T	p.T375T	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1331	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	375			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.1125G>C	CCDS4081.1																																																																																				0.577	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1		NM_000439		6	20	0	0	0	0.001984	0	6	20		
MCC	4163	broad.mit.edu	37	5	112421001	112421001	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:112421001C>T	ENST00000302475.4	-	7	1398	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MCC_ENST00000515367.2_Missense_Mutation_p.E216K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E469K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	279					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E279K(1)|p.E469K(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTGAAGCTCTCTGACCTGA	0.532																																						uc003kqj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(835-837)GAG>AAG		mutated in colorectal cancers isoform 2							131.0	131.0	131.0					5																	112421001		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112421001C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.835G>A	5.37:g.112421001C>T	ENSP00000305617:p.Glu279Lys					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E469K|MCC_uc011cwb.1_Missense_Mutation_p.E279K|MCC_uc010jcd.1_Missense_Mutation_p.E241K	p.E279K	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	7	1365	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	279					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.835G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205056	0.95033	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.51574	0.7;0.7;0.7	5.73	5.73	0.89815	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.57257	0.979;0.979;0.974;0.979	D;D;D;D	0.71414	0.973;0.973;0.969;0.973	T	0.55218	-0.8175	10	0.39692	T	0.17	-27.2275	19.8927	0.96935	0.0:1.0:0.0:0.0	.	279;241;469;279	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	279;216;469	ENSP00000305617:E279K;ENSP00000421615:E216K;ENSP00000386227:E469K	ENSP00000305617:E279K	E	-	1	0	MCC	112448900	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.013000	0.70776	2.711000	0.92665	0.655000	0.94253	GAG		0.532	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3		NM_001085377		27	103	0	0	0	0.003954	0	27	103		
MRPL22	29093	broad.mit.edu	37	5	154346442	154346442	+	Silent	SNP	C	C	T	rs370756659		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:154346442C>T	ENST00000523037.1	+	7	647	c.606C>T	c.(604-606)atC>atT	p.I202I	MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000522038.1_Silent_p.I208I|MRPL22_ENST00000265229.8_Silent_p.I122I|MRPL22_ENST00000439747.3_Silent_p.I228I	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	202					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I202I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGACCATCGTTCACACTC	0.438																																						uc003lvy.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(604-606)ATC>ATT		mitochondrial ribosomal protein L22 isoform a		C	,	1,4405		0,1,2202	46.0	40.0	42.0		366,606	4.9	1.0	5		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MRPL22	NM_001014990.2,NM_014180.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	122/127,202/207	154346442	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29093				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr5:154346442C>T	AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.606C>T	5.37:g.154346442C>T						MRPL22_uc003lvz.3_Silent_p.I122I	p.I202I	NM_014180	NP_054899	Q9NWU5	RM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		7	644	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	202					A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Silent	SNP	ENST00000523037.1	37	c.606C>T	CCDS4331.1																																																																																				0.438	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252508.2				4	20	0	0	0	0.009096	0	4	20		
MED7	9443	broad.mit.edu	37	5	156565803	156565803	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:156565803G>C	ENST00000286317.5	-	2	1021	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	MED7_ENST00000420343.1_Missense_Mutation_p.Q214E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	214					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.Q214E(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTATAATCTGATCTCTCCTA	0.348																																						uc010jik.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(640-642)CAG>GAG		mediator complex subunit 7							172.0	165.0	167.0					5																	156565803		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565803G>C	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.640C>G	5.37:g.156565803G>C	ENSP00000286317:p.Gln214Glu					MED7_uc003lwm.3_Missense_Mutation_p.Q214E	p.Q214E	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1032	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	214						Missense_Mutation	SNP	ENST00000286317.5	37	c.640C>G	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054881	0.07362	.	.	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	5.81	0.92471	.	0.111713	0.64402	D	0.000012	T	0.47691	0.1459	N	0.22421	0.69	0.43503	D	0.995755	B	0.02656	0.0	B	0.04013	0.001	T	0.48536	-0.9027	9	0.02654	T	1	-5.51	20.0784	0.97758	0.0:0.0:1.0:0.0	.	214	O43513	MED7_HUMAN	E	214	.	ENSP00000286317:Q214E	Q	-	1	0	MED7	156498381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.632000	0.67819	2.736000	0.93811	0.655000	0.94253	CAG		0.348	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2		NM_004270		43	223	0	0	0	0.003214	0	43	223		
STK10	6793	broad.mit.edu	37	5	171523528	171523528	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:171523528G>T	ENST00000176763.5	-	8	1250	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	303					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)	p.L303M(1)		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)			AGCTCCCGCAGAGCCTTGTTA	0.627																																						uc003mbo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(907-909)CTG>ATG		serine/threonine kinase 10							111.0	108.0	109.0					5																	171523528		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171523528G>T	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.907C>A	5.37:g.171523528G>T	ENSP00000176763:p.Leu303Met						p.L303M	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1207	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	303					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.907C>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263660	0.80358	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.71579	-0.58	4.96	4.02	0.46733	Protein kinase-like domain (1);	0.181563	0.37095	N	0.002246	T	0.79118	0.4392	M	0.72118	2.19	0.46749	D	0.999188	D	0.61697	0.99	D	0.71870	0.975	T	0.79997	-0.1567	10	0.87932	D	0	.	6.2519	0.20850	0.0988:0.19:0.7112:0.0	.	303	O94804	STK10_HUMAN	M	303	ENSP00000176763:L303M	ENSP00000176763:L303M	L	-	1	2	STK10	171456133	0.983000	0.35010	1.000000	0.80357	0.927000	0.56198	1.863000	0.39459	2.320000	0.78422	0.485000	0.47835	CTG		0.627	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2		NM_005990		6	124	1	0	0.00198382	0.001984	0.00203743	6	124		
HK3	3101	broad.mit.edu	37	5	176323070	176323070	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:176323070C>T	ENST00000292432.5	-	2	182	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	31	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.E31K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTACCAGCTCTGAGCTGTCT	0.587																																						uc003mfa.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(91-93)GAG>AAG		hexokinase 3							62.0	61.0	61.0					5																	176323070		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176323070C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.91G>A	5.37:g.176323070C>T	ENSP00000292432:p.Glu31Lys						p.E31K	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	183	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	31			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.91G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	4.107	0.017927	0.07959	.	.	ENSG00000160883	ENST00000292432	D	0.98192	-4.78	3.56	-0.524	0.11920	Hexokinase, N-terminal (1);	0.666598	0.12303	N	0.480973	D	0.90242	0.6949	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.83560	0.0106	10	0.02654	T	1	.	4.2045	0.10481	0.0:0.3961:0.3759:0.228	.	31	P52790	HXK3_HUMAN	K	31	ENSP00000292432:E31K	ENSP00000292432:E31K	E	-	1	0	HK3	176255676	0.014000	0.17966	0.004000	0.12327	0.475000	0.33008	0.014000	0.13333	-0.115000	0.11915	0.561000	0.74099	GAG		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1				19	57	0	0	0	0.006122	0	19	57		
ZNF354C	30832	broad.mit.edu	37	5	178506306	178506306	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:178506306G>C	ENST00000315475.6	+	5	1179	c.873G>C	c.(871-873)ctG>ctC	p.L291L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291					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)	p.L291L(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAAACATCTGAGAGTGCATA	0.418																																						uc003mju.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(871-873)CTG>CTC		zinc finger protein 354C							125.0	123.0	123.0					5																	178506306		2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506306G>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.873G>C	5.37:g.178506306G>C							p.L291L	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	988	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	291			C2H2-type 3.		Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.873G>C	CCDS4443.1																																																																																				0.418	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2				62	97	0	0	0	0.00361	0	62	97		
TBC1D9B	23061	broad.mit.edu	37	5	179292339	179292339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:179292339G>A	ENST00000356834.3	-	21	3024	c.2987C>T	c.(2986-2988)cCg>cTg	p.P996L	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P137L|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P979L|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P155L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	996						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P996L(1)|p.P979L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATAGTCCGGAGAGCTGGT	0.537																																						uc003mlh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)|skin(1)	2						c.(2986-2988)CCG>CTG		TBC1 domain family, member 9B (with GRAM domain)							112.0	111.0	111.0					5																	179292339		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179292339G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2987C>T	5.37:g.179292339G>A	ENSP00000349291:p.Pro996Leu					TBC1D9B_uc003mli.2_Missense_Mutation_p.P979L|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P978L|TBC1D9B_uc003mlf.2_Missense_Mutation_p.P70L|TBC1D9B_uc003mlg.2_Missense_Mutation_p.P155L|TBC1D9B_uc011dgv.1_Missense_Mutation_p.P155L	p.P996L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		21	3024	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	996					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2987C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	0.498	-0.872268	0.02570	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.35605	3.08;3.18;1.3;1.57	5.08	4.19	0.49359	.	0.366598	0.28026	N	0.016888	T	0.46405	0.1391	L	0.55103	1.725	0.09310	N	0.999996	B;B;B;B;D	0.89917	0.308;0.434;0.155;0.355;1.0	B;B;B;B;D	0.91635	0.026;0.057;0.017;0.079;0.999	T	0.32981	-0.9886	10	0.11182	T	0.66	-4.7777	6.8525	0.24022	0.086:0.0:0.469:0.445	.	978;979;996;195;70	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	L	996;979;155;137;70	ENSP00000349291:P996L;ENSP00000347375:P979L;ENSP00000430293:P155L;ENSP00000401585:P137L	ENSP00000347375:P979L	P	-	2	0	TBC1D9B	179224945	0.995000	0.38212	0.135000	0.22099	0.502000	0.33828	2.498000	0.45363	1.073000	0.40885	0.462000	0.41574	CCG		0.537	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3		NM_015043		7	118	0	0	0	0.006214	0	7	118		
KIF13A	63971	broad.mit.edu	37	6	17987315	17987315	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:17987315G>C	ENST00000259711.6	-	2	221	c.116C>G	c.(115-117)cCt>cGt	p.P39R	KIF13A_ENST00000378843.2_Missense_Mutation_p.P39R|KIF13A_ENST00000378816.5_Missense_Mutation_p.P39R|KIF13A_ENST00000378826.2_Missense_Mutation_p.P39R|KIF13A_ENST00000378814.5_Missense_Mutation_p.P39R|KIF13A_ENST00000502704.1_Missense_Mutation_p.P39R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	39	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)	p.P39R(2)		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)			AGAAGGAGGAGGGTGCAGGAC	0.562																																						uc003ncg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)|ovary(2)	4						c.(115-117)CCT>CGT		kinesin family member 13A isoform a							140.0	148.0	145.0					6																	17987315		1958	4142	6100	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.chr6:17987315G>C	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.116C>G	6.37:g.17987315G>C	ENSP00000259711:p.Pro39Arg					KIF13A_uc003ncf.2_Missense_Mutation_p.P39R|KIF13A_uc003nch.3_Missense_Mutation_p.P39R|KIF13A_uc003nci.3_Missense_Mutation_p.P39R|KIF13A_uc003nck.2_RNA	p.P39R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		2	221	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	39			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.116C>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653649	0.88056	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000502704	T;T;T;T;T;D	0.87571	-0.84;-0.84;-0.84;-0.84;-0.84;-2.27	5.05	5.05	0.67936	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	T	0.81545	0.4845	N	0.17278	0.47	0.58432	D	0.999998	B;P;P;P	0.51351	0.005;0.944;0.91;0.944	B;P;P;P	0.56042	0.037;0.79;0.689;0.714	T	0.81075	-0.1097	10	0.25106	T	0.35	.	17.9909	0.89169	0.0:0.0:1.0:0.0	.	39;39;39;39	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	R	39	ENSP00000368091:P39R;ENSP00000259711:P39R;ENSP00000368103:P39R;ENSP00000368120:P39R;ENSP00000368093:P39R;ENSP00000425453:P39R	ENSP00000259711:P39R	P	-	2	0	KIF13A	18095294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.849000	0.86908	2.340000	0.79590	0.561000	0.74099	CCT		0.562	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				9	123	0	0	0	0.008291	0	9	123		
ZSCAN16	80345	broad.mit.edu	37	6	28093491	28093491	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:28093491G>C	ENST00000340487.4	+	2	419	c.270G>C	c.(268-270)ctG>ctC	p.L90L	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	90	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)	p.L90L(1)		large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AACAGTTCCTGAGCATTCTTC	0.552																																						uc003nkm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(268-270)CTG>CTC		zinc finger and SCAN domain containing 16							92.0	78.0	83.0					6																	28093491		2203	4300	6503	SO:0001819	synonymous_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093491G>C	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.270G>C	6.37:g.28093491G>C						uc010jqw.1_Intron|uc003nkk.1_RNA|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Silent_p.L90L	p.L90L	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN			2	370	+			90			SCAN box.		Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.270G>C	CCDS4644.1																																																																																				0.552	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		NM_025231		8	91	0	0	0	0.00308	0	8	91		
TNXB	7148	broad.mit.edu	37	6	32014187	32014187	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32014187C>T	ENST00000375244.3	-	31	10572	c.10371G>A	c.(10369-10371)gtG>gtA	p.V3457V	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.V3455V			P22105	TENX_HUMAN	tenascin XB	3502	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V3457V(1)|p.V3522V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCCTCAGCCACGGTCAGTT	0.632																																						uc003nzl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(10363-10365)GTG>GTA		tenascin XB isoform 1 precursor							27.0	32.0	31.0					6																	32014187		1420	2639	4059	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32014187C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10371G>A	6.37:g.32014187C>T						TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	p.V3455V	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10567	-			3502			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10365G>A																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		7	20	0	0	0	0.004482	0	7	20		
PPT2	9374	broad.mit.edu	37	6	32130348	32130348	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32130348C>G	ENST00000324816.6	+	8	1282	c.714C>G	c.(712-714)ttC>ttG	p.F238L	PPT2_ENST00000375143.2_Missense_Mutation_p.F238L|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.F244L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.F238L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.F238L|PPT2_ENST00000375137.2_Missense_Mutation_p.F238L|PPT2_ENST00000437001.2_Missense_Mutation_p.F115L|EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.F238L			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	238					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.F244L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTTGTAGCTTCTTTGGTTTCT	0.532																																						uc003nzx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(712-714)TTC>TTG		palmitoyl-protein thioesterase 2 isoform a							159.0	177.0	171.0					6																	32130348		2203	4300	6503	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130348C>G	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.714C>G	6.37:g.32130348C>G	ENSP00000320528:p.Phe238Leu					PPT2_uc003nzw.2_Missense_Mutation_p.F244L|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.F238L|PPT2_uc003oaa.2_Missense_Mutation_p.F238L|PPT2_uc010jtu.1_Missense_Mutation_p.F238L|EGFL8_uc003oac.1_5'Flank|EGFL8_uc003oab.1_5'Flank	p.F238L	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN			8	1282	+			238					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.714C>G	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	C	5.190	0.220535	0.09863	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	4.86	3.05	0.35203	.	0.182284	0.48767	D	0.000178	T	0.76234	0.3959	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.15141	0.012;0.009;0.009	B;B;B	0.10450	0.004;0.005;0.005	T	0.74028	-0.3796	10	0.45353	T	0.12	-6.6967	7.0761	0.25205	0.0:0.798:0.0:0.202	.	238;238;244	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	L	244;238;238;238;115;238;238	ENSP00000354608:F244L;ENSP00000378894:F238L;ENSP00000412381:F238L;ENSP00000320528:F238L;ENSP00000415350:F115L;ENSP00000364279:F238L;ENSP00000364285:F238L	ENSP00000320528:F238L	F	+	3	2	PPT2	32238326	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.002000	0.13061	1.383000	0.46405	0.655000	0.94253	TTC		0.532	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4		NM_138717		71	234	0	0	0	0.00361	0	71	234		
TAP2	6891	broad.mit.edu	37	6	32800587	32800587	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:32800587C>A	ENST00000452392.2	-	6	1133	c.960G>T	c.(958-960)gaG>gaT	p.E320D	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Missense_Mutation_p.E320D|TAP2_ENST00000374899.4_Missense_Mutation_p.E320D			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.E320D(2)								Vitamin E(DB00163)	CATCCTGGATCTCCCGAAGCA	0.612																																						uc003occ.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(958-960)GAG>GAT		transporter 2, ATP-binding cassette, sub-family							49.0	53.0	52.0					6																	32800587		1509	2709	4218	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32800587C>A	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.960G>T	6.37:g.32800587C>A	ENSP00000391806:p.Glu320Asp					TAP2_uc011dqf.1_Missense_Mutation_p.E320D|TAP2_uc003ocb.1_Missense_Mutation_p.E320D|TAP2_uc003ocd.2_Missense_Mutation_p.E320D	p.E320D	NM_018833	NP_061313	Q03519	TAP2_HUMAN			5	991	-			320			Involved in peptide-binding site.|ABC transmembrane type-1.|Cytoplasmic (Potential).		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.960G>T		.	.	.	.	.	.	.	.	.	.	C	19.20	3.780945	0.70222	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.89875	-2.58;-2.58;-2.58	4.95	4.06	0.47325	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.247986	0.27996	N	0.017012	D	0.86957	0.6058	M	0.64630	1.985	0.33054	D	0.533128	P;P;P;P	0.51653	0.599;0.947;0.947;0.947	B;P;P;P	0.53401	0.348;0.725;0.725;0.725	D	0.84774	0.0769	9	0.30078	T	0.28	-18.4417	11.4084	0.49911	0.0:0.9094:0.0:0.0906	.	320;321;320;320	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	D	320	ENSP00000364034:E320D;ENSP00000364032:E320D;ENSP00000391806:E320D	ENSP00000364032:E320D	E	-	3	2	XXbac-BPG246D15.9;TAP2	32908565	0.009000	0.17119	1.000000	0.80357	0.890000	0.51754	-0.068000	0.11561	2.554000	0.86153	0.542000	0.68232	GAG		0.612	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1		NM_000544		7	33	1	0	0.00448238	0.004482	0.00455872	7	33		
RGL2	5863	broad.mit.edu	37	6	33261395	33261395	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:33261395G>C	ENST00000497454.1	-	14	2085	c.1590C>G	c.(1588-1590)atC>atG	p.I530M	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_3'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	530					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.I530M(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TCCACTGCGAGATGACCAATG	0.572																																						uc003odv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1588-1590)ATC>ATG		ral guanine nucleotide dissociation							60.0	62.0	61.0					6																	33261395		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33261395G>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1590C>G	6.37:g.33261395G>C	ENSP00000420211:p.Ile530Met					RGL2_uc003odu.2_Missense_Mutation_p.I90M|RGL2_uc010jur.2_Missense_Mutation_p.I90M|RGL2_uc003odw.2_Missense_Mutation_p.I448M|RGL2_uc011drb.1_3'UTR	p.I530M	NM_004761	NP_004752	O15211	RGL2_HUMAN			14	1723	-			530					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1590C>G	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841849	0.32513	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.12039	2.72	4.37	4.37	0.52481	Ras guanine nucleotide exchange factor, domain (1);	0.065485	0.64402	D	0.000016	T	0.07728	0.0194	L	0.50333	1.59	0.80722	D	1	B	0.22909	0.077	B	0.28709	0.093	T	0.05354	-1.0890	10	0.44086	T	0.13	.	12.3037	0.54889	0.0:0.0:1.0:0.0	.	530	O15211	RGL2_HUMAN	M	530;394	ENSP00000420211:I530M	ENSP00000400083:I394M	I	-	3	3	RGL2	33369373	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.693000	0.68264	2.261000	0.74972	0.448000	0.29417	ATC		0.572	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2				10	40	0	0	0	0.001855	0	10	40		
FKBP5	2289	broad.mit.edu	37	6	35565137	35565137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35565137C>G	ENST00000539068.1	-	6	755	c.553G>C	c.(553-555)Gat>Cat	p.D185H	FKBP5_ENST00000357266.4_Missense_Mutation_p.D185H|FKBP5_ENST00000536438.1_Missense_Mutation_p.D185H|FKBP5_ENST00000542713.1_Missense_Mutation_p.D185H|FKBP5_ENST00000540787.1_Missense_Mutation_p.D6H	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	185	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.D185H(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGCCACATCTCTGCAGTCA	0.488																																						uc011dte.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(553-555)GAT>CAT		FK506 binding protein 5 isoform 1							133.0	117.0	123.0					6																	35565137		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35565137C>G	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.553G>C	6.37:g.35565137C>G	ENSP00000441205:p.Asp185His					FKBP5_uc003okx.2_Missense_Mutation_p.D185H|FKBP5_uc011dtf.1_Missense_Mutation_p.D6H|FKBP5_uc003oky.2_Missense_Mutation_p.D185H|FKBP5_uc003okz.2_Missense_Mutation_p.D185H	p.D185H	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			6	756	-			185			PPIase FKBP-type 2.		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.553G>C	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563427	0.65651	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.05	4.13	0.48395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.124042	0.52532	D	0.000066	D	0.89684	0.6786	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90615	0.4555	10	0.72032	D	0.01	5.5241	11.2052	0.48765	0.0:0.9092:0.0:0.0908	.	185;185	F5H7R1;Q13451	.;FKBP5_HUMAN	H	185;185;185;185;6;148;185;183	ENSP00000444810:D185H;ENSP00000349811:D185H;ENSP00000441205:D185H;ENSP00000445412:D6H;ENSP00000442340:D185H	ENSP00000338160:D185H	D	-	1	0	FKBP5	35673115	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.922000	0.56462	1.160000	0.42584	-0.367000	0.07326	GAT		0.488	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2				9	98	0	0	0	0.004482	0	9	98		
LHFPL5	222662	broad.mit.edu	37	6	35773576	35773576	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:35773576C>G	ENST00000373853.1	+	1	507	c.129C>G	c.(127-129)ctC>ctG	p.L43L	LHFPL5_ENST00000360215.1_Silent_p.L43L			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	43					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.L43L(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATGGCCCTCTTCATCCAGC	0.592																																						uc003olg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(127-129)CTC>CTG		lipoma HMGIC fusion partner-like 5							235.0	204.0	214.0					6																	35773576		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773576C>G	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.129C>G	6.37:g.35773576C>G							p.L43L	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			1	506	+			43			Helical; (Potential).		B3KX66	Silent	SNP	ENST00000373853.1	37	c.129C>G	CCDS4812.1																																																																																				0.592	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1		NM_182548		35	115	0	0	0	0.006999	0	35	115		
CDKN1A	1026	broad.mit.edu	37	6	36652284	36652284	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:36652284G>C	ENST00000405375.1	+	2	641	c.406G>C	c.(406-408)Gac>Cac	p.D136H	CDKN1A_ENST00000244741.5_Missense_Mutation_p.D136H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D170H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D136H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	136					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.D136H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGGACCTGGAGACTCTCAGGG	0.587																																						uc003omm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(406-408)GAC>CAC		cyclin-dependent kinase inhibitor 1A							53.0	55.0	54.0					6																	36652284		2203	4300	6503	SO:0001583	missense	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.chr6:36652284G>C	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.406G>C	6.37:g.36652284G>C	ENSP00000384849:p.Asp136His					CDKN1A_uc011dtq.1_Missense_Mutation_p.D170H|CDKN1A_uc003oml.2_Missense_Mutation_p.D136H|CDKN1A_uc003omn.2_Missense_Mutation_p.D136H	p.D136H	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	528	+			136					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.406G>C	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	6.733	0.503942	0.12822	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.08	0.747	0.18371	.	1.141530	0.06438	N	0.725427	T	0.20414	0.0491	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39782	0.688;0.553;0.553	B;B;B	0.31751	0.135;0.135;0.135	T	0.13764	-1.0497	10	0.46703	T	0.11	-3.1711	3.6738	0.08284	0.5342:0.1935:0.2723:0.0	.	170;136;136	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	H	170;136;136;136	ENSP00000409259:D170H;ENSP00000244741:D136H;ENSP00000384849:D136H;ENSP00000362815:D136H	ENSP00000244741:D136H	D	+	1	0	CDKN1A	36760262	0.000000	0.05858	0.015000	0.15790	0.287000	0.27160	0.035000	0.13797	0.089000	0.17243	-0.367000	0.07326	GAC		0.587	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		4	33	0	0	0	0.009096	0	4	33		
RSPH9	221421	broad.mit.edu	37	6	43624433	43624433	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:43624433G>A	ENST00000372163.4	+	4	696	c.643G>A	c.(643-645)Gac>Aac	p.D215N	RSPH9_ENST00000372165.4_Missense_Mutation_p.D200N	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	215					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.D200N(1)|p.D215N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGATTTCATGGACTCCTTGGA	0.517									Kartagener syndrome																													uc003ovw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(643-645)GAC>AAC		radial spoke head 9 homolog							172.0	165.0	168.0					6																	43624433		2203	4300	6503	SO:0001583	missense	221421	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43624433G>A	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.643G>A	6.37:g.43624433G>A	ENSP00000361236:p.Asp215Asn					RSPH9_uc003ovx.1_Missense_Mutation_p.D200N	p.D215N	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN			4	669	+			215					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.643G>A	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421711	0.83559	.	.	ENSG00000172426	ENST00000372165;ENST00000372163	T	0.51817	0.69	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.71755	-0.4497	10	0.38643	T	0.18	2.0925	15.14	0.72604	0.0:0.0:1.0:0.0	.	200;215	Q96NH9;Q9H1X1	.;RSPH9_HUMAN	N	200;215	ENSP00000361236:D215N	ENSP00000361236:D215N	D	+	1	0	RSPH9	43732411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.157000	0.77461	2.150000	0.67090	0.563000	0.77884	GAC		0.517	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1		NM_152732		10	434	0	0	0	0.000978	0	10	434		
HSP90AB1	3326	broad.mit.edu	37	6	44216498	44216498	+	Missense_Mutation	SNP	C	C	G	rs377590361		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:44216498C>G	ENST00000371554.1	+	2	346	c.132C>G	c.(130-132)atC>atG	p.I44M	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I44M|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I44M			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	44					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.I44M(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAGTTGATCTCTAATGCTT	0.433																																						uc003oxa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(1)	4						c.(130-132)ATC>ATG		heat shock 90kDa protein 1, beta							217.0	219.0	218.0					6																	44216498		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44216498C>G	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.132C>G	6.37:g.44216498C>G	ENSP00000360609:p.Ile44Met					HSP90AB1_uc011dvr.1_Missense_Mutation_p.I44M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I44M|HSP90AB1_uc011dvs.1_Translation_Start_Site|HSP90AB1_uc003oxc.1_5'Flank	p.I44M	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	216	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		44					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.132C>G	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958753	0.53400	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.81415	-1.49;-1.49;-1.49	4.26	0.0763	0.14402	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.075907	0.51477	U	0.000086	D	0.92149	0.7511	H	0.99979	5.185	0.58432	D	0.999999	D;D	0.67145	0.959;0.996	D;D	0.77004	0.937;0.989	D	0.87253	0.2274	10	0.87932	D	0	-12.4031	5.8172	0.18500	0.1318:0.565:0.0:0.3032	.	44;44	B4DGL0;P08238	.;HS90B_HUMAN	M	44	ENSP00000360709:I44M;ENSP00000325875:I44M;ENSP00000360609:I44M	ENSP00000325875:I44M	I	+	3	3	HSP90AB1	44324476	0.918000	0.31147	0.997000	0.53966	0.923000	0.55619	0.079000	0.14782	0.032000	0.15435	-0.362000	0.07510	ATC		0.433	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355		12	363	0	0	0	0.001855	0	12	363		
HCRTR2	3062	broad.mit.edu	37	6	55120033	55120033	+	Missense_Mutation	SNP	C	C	T	rs141639071		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:55120033C>T	ENST00000370862.3	+	3	838	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACAGCAAAGCGGGCCCGTAA	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15556	0.0		0.0	False		,,,				2504	0.0					uc003pcl.2		NaN																	2	Substitution - Missense(2)	p.R168W(1)	urinary_tract(1)|ovary(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(502-504)CGG>TGG		orexin receptor 2							175.0	146.0	155.0					6																	55120033		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120033C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.502C>T	6.37:g.55120033C>T	ENSP00000359899:p.Arg168Trp					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103W	p.R168W	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	817	+	Lung NSC(77;0.107)|Renal(3;0.122)		168			Cytoplasmic (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.502C>T	CCDS4956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.87	3.242027	0.58995	.	.	ENSG00000137252	ENST00000370862	T	0.41065	1.01	5.05	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76236	-0.3033	10	0.66056	D	0.02	.	15.097	0.72242	0.636:0.364:0.0:0.0	.	168;168	Q548Y0;O43614	.;OX2R_HUMAN	W	168	ENSP00000359899:R168W	ENSP00000359899:R168W	R	+	1	2	HCRTR2	55227992	0.459000	0.25768	0.942000	0.38095	0.918000	0.54935	-0.172000	0.09868	-0.108000	0.12066	-0.466000	0.05196	CGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1				5	72	0	0	0	0.001168	0	5	72		
MYO6	4646	broad.mit.edu	37	6	76623906	76623906	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:76623906A>C	ENST00000369977.3	+	34	3705	c.3566A>C	c.(3565-3567)aAa>aCa	p.K1189T	MYO6_ENST00000369981.3_Missense_Mutation_p.K1190T|MYO6_ENST00000369985.4_Missense_Mutation_p.K1166T|MYO6_ENST00000369975.1_Missense_Mutation_p.K1157T	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1198					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K1189T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAGTAAGAAAAAAGGCTGG	0.532																																						uc003pih.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|pancreas(1)	2						c.(3565-3567)AAA>ACA		myosin VI							146.0	151.0	149.0					6																	76623906		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76623906A>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3566A>C	6.37:g.76623906A>C	ENSP00000358994:p.Lys1189Thr					MYO6_uc003pii.1_Missense_Mutation_p.K1166T|MYO6_uc003pij.1_Missense_Mutation_p.K137T	p.K1189T	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	34	3845	+		all_hematologic(105;0.189)	1198					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3566A>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991940	0.74703	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.90504	-2.64;-2.63;-2.57;-2.68	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.979;1.0	D	0.95381	0.8473	10	0.72032	D	0.01	.	16.2979	0.82784	1.0:0.0:0.0:0.0	.	1166;1189	Q9UM54-2;Q9UM54-1	.;.	T	1199;1190;1166;1189;1157	ENSP00000358998:K1190T;ENSP00000359002:K1166T;ENSP00000358994:K1189T;ENSP00000358992:K1157T	ENSP00000358992:K1157T	K	+	2	0	MYO6	76680626	1.000000	0.71417	0.972000	0.41901	0.924000	0.55760	8.931000	0.92884	2.241000	0.73720	0.533000	0.62120	AAA		0.532	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2		NM_004999		15	176	0	0	0	0.003163	0	15	176		
L3MBTL3	84456	broad.mit.edu	37	6	130413972	130413972	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130413972C>G	ENST00000529410.1	+	19	2080	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S534*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S534*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	534					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S534*(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGCTGGTGTTCAAAAACAGGA	0.408																																						uc003qbt.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(1600-1602)TCA>TGA		l(3)mbt-like 3 isoform a							151.0	138.0	143.0					6																	130413972		2203	4300	6503	SO:0001587	stop_gained	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130413972C>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1601C>G	6.37:g.130413972C>G	ENSP00000431962:p.Ser534*					L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.S509*	p.S534*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	17	1771	+			534			MBT 3.		Q4VXE1|Q5VUM9|Q6P9B5	Nonsense_Mutation	SNP	ENST00000529410.1	37	c.1601C>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	39	7.413707	0.98269	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	.	.	.	5.42	5.42	0.78866	.	0.273852	0.34603	N	0.003825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	14.3022	0.66359	0.0:0.8503:0.1497:0.0	.	.	.	.	X	534;509;534;509;509;534	.	ENSP00000354526:S534X	S	+	2	0	L3MBTL3	130455665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.558000	0.45879	2.551000	0.86045	0.591000	0.81541	TCA		0.408	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2		XM_027074		23	110	0	0	0	0.00333	0	23	110		
TMEM200A	114801	broad.mit.edu	37	6	130762701	130762701	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:130762701C>G	ENST00000296978.3	+	3	2005	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A	TMEM200A_ENST00000545622.1_Silent_p.A378A|TMEM200A_ENST00000392429.1_Silent_p.A378A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	378						integral component of membrane (GO:0016021)		p.A378A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGGGCTGCCAGAAGACAGT	0.522																																						uc003qca.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1132-1134)GCC>GCG		transmembrane protein 200A							75.0	75.0	75.0					6																	130762701		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762701C>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1134C>G	6.37:g.130762701C>G						TMEM200A_uc010kfh.2_Silent_p.A378A|TMEM200A_uc010kfi.2_Silent_p.A378A|TMEM200A_uc003qcb.2_Silent_p.A378A	p.A378A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	2005	+			378			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.1134C>G	CCDS5140.1																																																																																				0.522	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913		13	74	0	0	0	0.001855	0	13	74		
NUP43	348995	broad.mit.edu	37	6	150067104	150067104	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:150067104C>G	ENST00000340413.2	-	2	291	c.215G>C	c.(214-216)aGa>aCa	p.R72T	NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000460354.2_Missense_Mutation_p.R72T|NUP43_ENST00000367404.4_Missense_Mutation_p.R72T|NUP43_ENST00000367403.3_Missense_Mutation_p.R133T	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	72					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.R72T(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACCATGGTGTCTGATATCACA	0.368																																						uc003qmz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(214-216)AGA>ACA		nucleoporin 43kDa							129.0	126.0	127.0					6																	150067104		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067104C>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.215G>C	6.37:g.150067104C>G	ENSP00000342262:p.Arg72Thr					NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.R72T	p.R72T	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	2	272	-		Ovarian(120;0.0164)	72			WD 2.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.215G>C	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121663	0.20877	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.71934	-0.02;-0.02;-0.61;-0.61;-0.61	6.08	-12.2	0.00006	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.803318	0.11970	N	0.511826	T	0.27798	0.0684	N	0.22421	0.69	0.25095	N	0.990822	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28586	-1.0039	10	0.16420	T	0.52	-3.1061	20.0114	0.97452	0.0:0.2102:0.0621:0.7277	.	72;72	B4E2F0;Q8NFH3	.;NUP43_HUMAN	T	72;72;133;72;79	ENSP00000342262:R72T;ENSP00000432401:R72T;ENSP00000356373:R133T;ENSP00000356374:R72T;ENSP00000438031:R79T	ENSP00000342262:R72T	R	-	2	0	NUP43	150108797	0.008000	0.16893	0.012000	0.15200	0.964000	0.63967	-0.795000	0.04580	-3.022000	0.00269	-0.749000	0.03505	AGA		0.368	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1		NM_198887		31	160	0	0	0	0.002096	0	31	160		
SYNE1	23345	broad.mit.edu	37	6	152563519	152563519	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152563519C>G	ENST00000367255.5	-	107	20350	c.19749G>C	c.(19747-19749)caG>caC	p.Q6583H	SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1107H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6512H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6195H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6583H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6512H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6583					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q6583H(2)|p.Q6512H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTAAGGTTCTGATTCAGAC	0.473										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19747-19749)CAG>CAC		spectrin repeat containing, nuclear envelope 1							138.0	123.0	128.0					6																	152563519		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152563519C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19749G>C	6.37:g.152563519C>G	ENSP00000356224:p.Gln6583His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.Q1107H|SYNE1_uc003qos.3_Missense_Mutation_p.Q1107H|SYNE1_uc003qot.3_Missense_Mutation_p.Q6512H|SYNE1_uc003qou.3_Missense_Mutation_p.Q6583H	p.Q6583H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	107	20351	-		Ovarian(120;0.0955)	6583			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19749G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243697	0.22796	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.44	1.06	0.20224	.	0.000000	0.51477	D	0.000089	T	0.20455	0.0492	L	0.58669	1.825	0.49798	D	0.999829	P;P;P	0.37525	0.462;0.462;0.598	B;B;B	0.40602	0.18;0.18;0.334	T	0.03784	-1.1004	10	0.48119	T	0.1	.	9.9089	0.41392	0.0:0.6405:0.0:0.3595	.	6583;6583;6512	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6583;6512;6583;6512;6195;1107	ENSP00000356224:Q6583H;ENSP00000396024:Q6512H;ENSP00000265368:Q6583H;ENSP00000390975:Q6512H;ENSP00000341887:Q6195H;ENSP00000349276:Q1107H	ENSP00000265368:Q6583H	Q	-	3	2	SYNE1	152605212	0.901000	0.30685	0.990000	0.47175	0.461000	0.32589	0.033000	0.13754	0.116000	0.18110	-0.148000	0.13756	CAG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		29	120	0	0	0	0.005443	0	29	120		
SYNE1	23345	broad.mit.edu	37	6	152771879	152771879	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr6:152771879G>A	ENST00000367255.5	-	27	3877	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	SYNE1_ENST00000367248.3_Silent_p.D1082D|SYNE1_ENST00000413186.2_Silent_p.D1092D|SYNE1_ENST00000448038.1_Silent_p.D1099D|SYNE1_ENST00000341594.5_Silent_p.D1158D|SYNE1_ENST00000265368.4_Silent_p.D1092D|SYNE1_ENST00000423061.1_Silent_p.D1099D|SYNE1_ENST00000367253.4_Silent_p.D1092D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D1092D(2)|p.D1099D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTTACTGGGTCCCGCACTG	0.493										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3274-3276)GAC>GAT		spectrin repeat containing, nuclear envelope 1							164.0	157.0	159.0					6																	152771879		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152771879G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3276C>T	6.37:g.152771879G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.D1099D|SYNE1_uc003qou.3_Silent_p.D1092D|SYNE1_uc010kjb.1_Silent_p.D1075D|SYNE1_uc003qow.2_Silent_p.D387D|SYNE1_uc003qox.1_Silent_p.D608D	p.D1092D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3878	-		Ovarian(120;0.0955)	1092			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.3276C>T	CCDS5236.2																																																																																				0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		8	263	0	0	0	0.006214	0	8	263		
CYP2W1	54905	broad.mit.edu	37	7	1024674	1024674	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:1024674G>A	ENST00000308919.7	+	3	439	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CYP2W1_ENST00000340150.6_Silent_p.P86P	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	142					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.P142P(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCGGGAGCCGGTGGCTGACA	0.677																																						uc003sjq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(424-426)CCG>CCA		cytochrome P450, family 2, subfamily W,							29.0	36.0	34.0					7																	1024674		2200	4298	6498	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024674G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.426G>A	7.37:g.1024674G>A						CYP2W1_uc003sjr.1_Silent_p.P142P	p.P142P	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	439	+		Ovarian(82;0.0112)	142						Silent	SNP	ENST00000308919.7	37	c.426G>A	CCDS5319.2																																																																																				0.677	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1		NM_017781		14	16	0	0	0	0.007413	0	14	16		
CHST12	55501	broad.mit.edu	37	7	2472655	2472655	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:2472655G>C	ENST00000258711.6	+	2	516	c.381G>C	c.(379-381)gtG>gtC	p.V127V		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	127					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.V127V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGAGGAGCGTGCTGCGGGGCT	0.706																																						uc003smc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(379-381)GTG>GTC		carbohydrate sulfotransferase 12							31.0	34.0	33.0					7																	2472655		2202	4300	6502	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472655G>C	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.381G>C	7.37:g.2472655G>C						CHST12_uc003smd.2_Silent_p.V127V	p.V127V	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	516	+		Ovarian(82;0.0253)	127			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.381G>C	CCDS5333.1																																																																																				0.706	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3		NM_018641		16	45	0	0	0	0.003163	0	16	45		
DAGLB	221955	broad.mit.edu	37	7	6461401	6461401	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:6461401A>T	ENST00000297056.6	-	9	1344	c.1175T>A	c.(1174-1176)gTg>gAg	p.V392E	DAGLB_ENST00000428902.2_Missense_Mutation_p.V265E|DAGLB_ENST00000436575.1_Missense_Mutation_p.V351E|DAGLB_ENST00000421761.2_Missense_Mutation_p.V136E|DAGLB_ENST00000425398.2_Missense_Mutation_p.V263E	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	392					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V392E(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CACGTCCAGCACCTCACTCTC	0.587																																						uc003sqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1174-1176)GTG>GAG		diacylglycerol lipase, beta isoform 1							237.0	142.0	174.0					7																	6461401		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6461401A>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1175T>A	7.37:g.6461401A>T	ENSP00000297056:p.Val392Glu					DAGLB_uc003spz.2_Missense_Mutation_p.V89E|DAGLB_uc011jwt.1_Missense_Mutation_p.V206E|DAGLB_uc011jwu.1_Missense_Mutation_p.V263E|DAGLB_uc003sqb.2_Missense_Mutation_p.V111E|DAGLB_uc003sqc.2_Missense_Mutation_p.V111E|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.V351E|DAGLB_uc011jww.1_RNA	p.V392E	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	9	1345	-		Ovarian(82;0.232)	392			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1175T>A	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	A	0.095	-1.161352	0.01673	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575;ENST00000428902;ENST00000421761	T;T;T	0.41758	1.0;0.99;1.0	5.78	-4.37	0.03633	.	1.691540	0.03418	N	0.205846	T	0.15696	0.0378	N	0.03999	-0.3	0.09310	N	1	P;B;B;B	0.37955	0.612;0.245;0.005;0.048	B;B;B;B	0.37480	0.251;0.08;0.009;0.039	T	0.13980	-1.0489	10	0.02654	T	1	-10.003	4.3299	0.11059	0.0702:0.2432:0.2405:0.4461	.	263;206;392;89	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	E	392;263;351;265;136	ENSP00000297056:V392E;ENSP00000391171:V263E;ENSP00000404785:V351E	ENSP00000297056:V392E	V	-	2	0	DAGLB	6427926	0.999000	0.42202	0.002000	0.10522	0.052000	0.14988	0.600000	0.24104	-0.581000	0.05937	0.459000	0.35465	GTG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2		NM_139179		6	20	0	0	0	0.001168	0	6	20		
HDAC9	9734	broad.mit.edu	37	7	18975441	18975441	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:18975441A>T	ENST00000432645.2	+	22	2804	c.2804A>T	c.(2803-2805)cAt>cTt	p.H935L	HDAC9_ENST00000401921.1_Missense_Mutation_p.H894L|HDAC9_ENST00000406451.4_Missense_Mutation_p.H935L|HDAC9_ENST00000441542.2_Missense_Mutation_p.H938L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	935	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.H938L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGTTTTGGTCATTTGACGAAG	0.393																																						uc003suh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2803-2805)CAT>CTT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						202.0	198.0	200.0					7																	18975441		1941	4149	6090	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975441A>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2804A>T	7.37:g.18975441A>T	ENSP00000410337:p.His935Leu					HDAC9_uc003sue.2_Missense_Mutation_p.H935L|HDAC9_uc003sui.2_Missense_Mutation_p.H938L|HDAC9_uc003suj.2_Missense_Mutation_p.H894L|HDAC9_uc003suk.2_Missense_Mutation_p.H183L	p.H935L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			22	2845	+	all_lung(11;0.187)		935			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2804A>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208842	0.58343	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.81	5.81	0.92471	Histone deacetylase domain (2);	0.093511	0.46758	D	0.000271	T	0.64249	0.2581	L	0.42487	1.325	0.80722	D	1	B;B;B;B;B	0.25904	0.005;0.137;0.082;0.101;0.082	B;B;B;B;B	0.31946	0.008;0.085;0.085;0.138;0.085	T	0.64296	-0.6441	10	0.87932	D	0	-33.352	16.1534	0.81640	1.0:0.0:0.0:0.0	.	183;894;938;935;935	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	L	935;894;935;938;847	ENSP00000384657:H935L;ENSP00000383912:H894L;ENSP00000410337:H935L;ENSP00000408617:H938L	ENSP00000339165:H847L	H	+	2	0	HDAC9	18941966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.955000	0.70306	2.211000	0.71520	0.460000	0.39030	CAT		0.393	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1				60	112	0	0	0	0.00361	0	60	112		
GARS	2617	broad.mit.edu	37	7	30673444	30673444	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:30673444G>C	ENST00000389266.3	+	17	2429	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	730					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)	p.E730Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TGAAGGGCAAGAGACTGGTAA	0.428																																						uc003tbm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2188-2190)GAG>CAG		glycyl-tRNA synthetase	Glycine(DB00145)						97.0	92.0	94.0					7																	30673444		1902	4121	6023	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30673444G>C	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.2188G>C	7.37:g.30673444G>C	ENSP00000373918:p.Glu730Gln						p.E730Q	NM_002047	NP_002038	P41250	SYG_HUMAN			17	2545	+			730					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.2188G>C	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498484	0.64298	.	.	ENSG00000106105	ENST00000389266	D	0.82711	-1.64	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.80763	0.4685	M	0.69823	2.125	0.80722	D	1	B	0.33512	0.415	B	0.27796	0.083	T	0.80618	-0.1302	10	0.39692	T	0.17	-22.759	15.6455	0.77046	0.0:0.0:1.0:0.0	.	730	P41250	SYG_HUMAN	Q	730	ENSP00000373918:E730Q	ENSP00000373918:E730Q	E	+	1	0	GARS	30639969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.615000	0.98356	2.627000	0.88993	0.650000	0.86243	GAG		0.428	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1		NM_002047		12	55	0	0	0	0.001855	0	12	55		
PDE1C	5137	broad.mit.edu	37	7	31793151	31793151	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:31793151C>T	ENST00000396191.1	-	18	2432	c.1977G>A	c.(1975-1977)ttG>ttA	p.L659L	PDE1C_ENST00000321453.7_Silent_p.L659L|PDE1C_ENST00000396193.1_Silent_p.L719L	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	659					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.L719L(1)|p.L659L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TAAAATGACGCAAAGGAGGCT	0.483																																						uc003tcm.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|central_nervous_system(1)	4						c.(1975-1977)TTG>TTA		phosphodiesterase 1C							104.0	99.0	100.0					7																	31793151		876	1991	2867	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31793151C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1977G>A	7.37:g.31793151C>T						PDE1C_uc003tcn.1_Silent_p.L659L|PDE1C_uc003tco.1_Silent_p.L719L	p.L659L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		18	2446	-			659					B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.1977G>A	CCDS55099.1																																																																																				0.483	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1				42	37	0	0	0	0.006999	0	42	37		
BBS9	27241	broad.mit.edu	37	7	33384191	33384191	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:33384191A>T	ENST00000242067.6	+	12	1796		c.e12-1		BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.?(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CTGTGTTTACAGCAAGCGACC	0.388									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.e12-2		parathyroid hormone-responsive B1 isoform 2							274.0	232.0	246.0					7																	33384191		2203	4300	6503	SO:0001630	splice_region_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33384191A>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1276-1A>T	7.37:g.33384191A>T						BBS9_uc003tdo.1_Splice_Site_p.Q426_splice|BBS9_uc003tdp.1_Splice_Site_p.Q426_splice|BBS9_uc003tdq.1_Splice_Site_p.Q426_splice|BBS9_uc010kwn.1_Splice_Site|BBS9_uc003tdr.1_5'Flank|BBS9_uc011kao.1_Splice_Site_p.Q304_splice	p.Q426_splice	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		12	1789	+								E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Splice_Site	SNP	ENST00000242067.6	37	c.1276_splice	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159983	0.57368	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	.	.	.	5.8	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6296	0.56649	0.8615:0.1385:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS9	33350716	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.300000	0.65721	0.973000	0.38340	0.528000	0.53228	.		0.388	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			Intron	26	94	0	0	0	0.00632	0	26	94		
INHBA	3624	broad.mit.edu	37	7	41739709	41739709	+	Silent	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:41739709T>C	ENST00000242208.4	-	2	510	c.264A>G	c.(262-264)agA>agG	p.R88R	INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Silent_p.R88R|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	88					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R88R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CATGAAGCTTTCTGATCGCGT	0.522										TSP Lung(11;0.080)																												uc003thq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|ovary(1)	6						c.(262-264)AGA>AGG		inhibin beta A precursor							315.0	332.0	326.0					7																	41739709		2203	4300	6503	SO:0001819	synonymous_variant	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739709T>C		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.264A>G	7.37:g.41739709T>C		TSP Lung(11;0.080)				LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Silent_p.R88R|LOC285954_uc003ths.2_Intron	p.R88R	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	499	-			88					Q14599	Silent	SNP	ENST00000242208.4	37	c.264A>G	CCDS5464.1																																																																																				0.522	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1				18	482	0	0	0	0.008871	0	18	482		
URGCP	55665	broad.mit.edu	37	7	43917868	43917868	+	Silent	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:43917868C>G	ENST00000453200.1	-	6	1687	c.1194G>C	c.(1192-1194)ctG>ctC	p.L398L	URGCP_ENST00000443736.1_Silent_p.L355L|URGCP_ENST00000447717.3_Silent_p.L355L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.L389L|URGCP_ENST00000223341.7_Silent_p.L355L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Silent_p.L355L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	398					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.L398L(1)|p.L355L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGAAATCTCAGGTTTGTGT	0.448																																						uc003tiw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|liver(1)|skin(1)	4						c.(1192-1194)CTG>CTC		up-regulated gene 4 isoform 3							131.0	127.0	128.0					7																	43917868		1965	4153	6118	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917868C>G		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1194G>C	7.37:g.43917868C>G						URGCP_uc003tiu.2_Silent_p.L355L|URGCP_uc003tiv.2_Silent_p.L323L|URGCP_uc003tix.2_Silent_p.L389L|URGCP_uc003tiy.2_Silent_p.L355L|URGCP_uc003tiz.2_Silent_p.L355L|URGCP_uc011kbj.1_Silent_p.L355L	p.L398L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1251	-			398					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.1194G>C	CCDS47578.1																																																																																				0.448	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1		NM_001077664		8	210	0	0	0	0.006214	0	8	210		
ABCB4	5244	broad.mit.edu	37	7	87032471	87032471	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:87032471G>C	ENST00000265723.4	-	27	3745	c.3634C>G	c.(3634-3636)Ctg>Gtg	p.L1212V	ABCB4_ENST00000545634.1_Missense_Mutation_p.L1205V|ABCB4_ENST00000453593.1_Missense_Mutation_p.L1158V|ABCB4_ENST00000359206.3_Missense_Mutation_p.L1205V|ABCB4_ENST00000358400.3_Missense_Mutation_p.L1158V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1212	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L1205V(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TCAGTATCCAGAGCTGATGTA	0.433																																						uc003uiv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(3634-3636)CTG>GTG		ATP-binding cassette, subfamily B, member 4							168.0	150.0	156.0					7																	87032471		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87032471G>C	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3634C>G	7.37:g.87032471G>C	ENSP00000265723:p.Leu1212Val					ABCB4_uc003uiw.1_Missense_Mutation_p.L1205V|ABCB4_uc003uix.1_Missense_Mutation_p.L1158V	p.L1212V	NM_018849	NP_061337	P21439	MDR3_HUMAN			27	3710	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1212			ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3634C>G	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.170597|3.170597	0.57584|0.57584	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634|ENST00000440025	D;D;D;D;D|.	0.90324|.	-2.65;-2.65;-2.65;-2.65;-2.65|.	5.25|5.25	3.43|3.43	0.39272|0.39272	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.59335|0.59335	0.2186|0.2186	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.964;0.94|.	D;P;P|.	0.71656|.	0.974;0.754;0.573|.	T|T	0.54384|0.54384	-0.8302|-0.8302	10|5	0.87932|.	D|.	0|.	-8.5153|-8.5153	11.4816|11.4816	0.50328|0.50328	0.2044:0.0:0.7956:0.0|0.2044:0.0:0.7956:0.0	.|.	1158;1205;1212|.	A4D1D5;P21439-2;P21439|.	.;.;MDR3_HUMAN|.	V|C	1205;1158;1212;1158;1205|16	ENSP00000352135:L1205V;ENSP00000351172:L1158V;ENSP00000265723:L1212V;ENSP00000392983:L1158V;ENSP00000437465:L1205V|.	ENSP00000265723:L1212V|.	L|S	-|-	1|2	2|0	ABCB4|ABCB4	86870407|86870407	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.644000|0.644000	0.38419|0.38419	3.307000|3.307000	0.51888|0.51888	0.704000|0.704000	0.31869|0.31869	-0.219000|-0.219000	0.12488|0.12488	CTG|TCT		0.433	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1		NM_000443		39	233	0	0	0	0.005524	0	39	233		
SAMD9	54809	broad.mit.edu	37	7	92732369	92732369	+	Silent	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:92732369C>T	ENST00000379958.2	-	3	3311	c.3042G>A	c.(3040-3042)gaG>gaA	p.E1014E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1014						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E1014E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAACAAATTCTCAGTTAGCA	0.373																																						uc003umf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3040-3042)GAG>GAA		sterile alpha motif domain containing 9							102.0	97.0	99.0					7																	92732369		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92732369C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3042G>A	7.37:g.92732369C>T						SAMD9_uc003umg.2_Silent_p.E1014E	p.E1014E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3298	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1014					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.3042G>A	CCDS34680.1																																																																																				0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654		72	86	0	0	0	0.00361	0	72	86		
TRRAP	8295	broad.mit.edu	37	7	98547739	98547739	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98547739G>C	ENST00000359863.4	+	37	5376	c.5167G>C	c.(5167-5169)Ggt>Cgt	p.G1723R	TRRAP_ENST00000446306.3_Missense_Mutation_p.G1704R|TRRAP_ENST00000355540.3_Missense_Mutation_p.G1705R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1723					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.G1705R(1)|p.G1723R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTTTACTGGTCGTTTTCT	0.413																																						uc003upp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(5167-5169)GGT>CGT		transformation/transcription domain-associated							114.0	112.0	112.0					7																	98547739		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547739G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5167G>C	7.37:g.98547739G>C	ENSP00000352925:p.Gly1723Arg					TRRAP_uc011kis.1_Missense_Mutation_p.G1705R|TRRAP_uc003upr.2_Missense_Mutation_p.G1422R	p.G1723R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		37	5376	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1723					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.5167G>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812536	0.70912	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02890	4.12;4.12	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	N	0.22421	0.69	0.80722	D	1	P;P;P	0.48294	0.908;0.639;0.879	B;B;B	0.41236	0.351;0.162;0.265	T	0.64914	-0.6295	10	0.12430	T	0.62	.	19.525	0.95201	0.0:0.0:1.0:0.0	.	1705;1444;1723	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	1723;1705;1703	ENSP00000352925:G1723R;ENSP00000347733:G1705R	ENSP00000347733:G1705R	G	+	1	0	TRRAP	98385675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.769000	0.85360	2.623000	0.88846	0.561000	0.74099	GGT		0.413	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		10	201	0	0	0	0.008291	0	10	201		
TRRAP	8295	broad.mit.edu	37	7	98588176	98588176	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:98588176G>T	ENST00000359863.4	+	63	9911	c.9702G>T	c.(9700-9702)tgG>tgT	p.W3234C	TRRAP_ENST00000446306.3_Missense_Mutation_p.W3205C|TRRAP_ENST00000355540.3_Missense_Mutation_p.W3205C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3234	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.W3205C(1)|p.W3234C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGGCCTGGATCCCACAGC	0.552																																						uc003upp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9700-9702)TGG>TGT		transformation/transcription domain-associated							87.0	71.0	76.0					7																	98588176		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98588176G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9702G>T	7.37:g.98588176G>T	ENSP00000352925:p.Trp3234Cys					TRRAP_uc011kis.1_Missense_Mutation_p.W3205C|TRRAP_uc003upr.2_Missense_Mutation_p.W2922C	p.W3234C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		63	9911	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3234			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9702G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.779041|4.779041	0.90195|0.90195	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.08008	.|3.14;3.16	5.67|5.67	5.67|5.67	0.87782|0.87782	.|PIK-related kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40694|0.40694	0.1127|0.1127	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	T|T	0.49234|0.49234	-0.8961|-0.8961	5|10	.|0.87932	.|D	.|0	.|.	19.7626|19.7626	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3205;2944;3234	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	V|C	2945|3234;3205;3204	.|ENSP00000352925:W3234C;ENSP00000347733:W3205C	.|ENSP00000347733:W3205C	G|W	+|+	2|3	0|0	TRRAP|TRRAP	98426112|98426112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.671000|2.671000	0.90904|0.90904	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.552	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		12	68	1	0	1.33834e-09	0.007413	1.44929e-09	12	68		
DNAJB9	4189	broad.mit.edu	37	7	108212184	108212184	+	Missense_Mutation	SNP	A	A	C	rs78948360		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:108212184A>C	ENST00000249356.3	+	2	560	c.14A>C	c.(13-15)cAg>cCg	p.Q5P	THAP5_ENST00000313516.5_5'Flank|DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|THAP5_ENST00000493722.1_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.Q5P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GCTACTCCCCAGTCAATTTTC	0.318																																						uc003vfn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(13-15)CAG>CCG		DnaJ (Hsp40) homolog, subfamily B, member 9							50.0	56.0	54.0					7																	108212184		2203	4299	6502	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212184A>C	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.14A>C	7.37:g.108212184A>C	ENSP00000249356:p.Gln5Pro					THAP5_uc003vfl.2_5'Flank|THAP5_uc003vfm.2_5'Flank	p.Q5P	NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN			2	216	+			5						Missense_Mutation	SNP	ENST00000249356.3	37	c.14A>C	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253013	0.80135	.	.	ENSG00000128590	ENST00000249356	T	0.61510	0.1	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.61192	-0.7112	9	.	.	.	.	14.2377	0.65937	1.0:0.0:0.0:0.0	rs57966866	5	Q9UBS3	DNJB9_HUMAN	P	5	ENSP00000249356:Q5P	.	Q	+	2	0	DNAJB9	107999420	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.172000	0.77604	1.946000	0.56461	0.460000	0.39030	CAG		0.318	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1				13	85	0	0	0	0.007413	0	13	85		
FOXP2	93986	broad.mit.edu	37	7	114299626	114299626	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:114299626G>C	ENST00000393494.2	+	13	1824		c.e13-1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCTCATTTCAGGCTATCATGG	0.363																																						uc003vhb.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.e13-1		forkhead box P2 isoform I							131.0	122.0	125.0					7																	114299626		2203	4300	6503	SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114299626G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1546-1G>C	7.37:g.114299626G>C						FOXP2_uc003vgu.2_Splice_Site|FOXP2_uc003vgz.2_Splice_Site_p.A541_splice|FOXP2_uc003vha.2_Splice_Site_p.A424_splice|FOXP2_uc011kmu.1_Splice_Site_p.A533_splice|FOXP2_uc011kmv.1_Splice_Site_p.A515_splice|FOXP2_uc010ljz.1_Splice_Site_p.A331_splice|FOXP2_uc003vhe.1_Splice_Site_p.A86_splice	p.A516_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	1920	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	SNP	ENST00000393494.2	37	c.1546_splice	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884756	0.51908	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXP2	114086862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	.		0.363	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491	Intron	14	130	0	0	0	0.003163	0	14	130		
LMOD2	442721	broad.mit.edu	37	7	123302335	123302335	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:123302335T>C	ENST00000458573.2	+	2	852	c.695T>C	c.(694-696)tTt>tCt	p.F232S	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	232						cytoskeleton (GO:0005856)		p.F232S(1)									CTTACCCGCTTTGCTGAAGCC	0.488																																						uc003vky.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(694-696)TTT>TCT		leiomodin 2 (cardiac)							95.0	95.0	95.0					7																	123302335		2097	4225	6322	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302335T>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.695T>C	7.37:g.123302335T>C	ENSP00000411932:p.Phe232Ser						p.F232S	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	852	+			232					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.695T>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.136471	0.77662	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93189	-3.18	5.04	5.04	0.67666	.	.	.	.	.	D	0.95089	0.8409	M	0.85373	2.75	0.80722	D	1	P	0.50710	0.938	P	0.49140	0.601	D	0.95711	0.8758	9	0.87932	D	0	-8.9499	14.8194	0.70059	0.0:0.0:0.0:1.0	.	232	Q6P5Q4	LMOD2_HUMAN	S	232;192;203	ENSP00000411932:F232S	ENSP00000405123:F203S	F	+	2	0	LMOD2	123089571	1.000000	0.71417	0.998000	0.56505	0.761000	0.43186	8.026000	0.88783	1.898000	0.54952	0.477000	0.44152	TTT		0.488	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1				5	21	0	0	0	0.001168	0	5	21		
STRIP2	57464	broad.mit.edu	37	7	129110495	129110495	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:129110495C>G	ENST00000249344.2	+	18	1923	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*	STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628*	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	628					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.S628*(1)									TACAGCATCTCAGTCCTGGAT	0.463																																						uc011koy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1882-1884)TCA>TGA		hypothetical protein LOC57464 isoform a							156.0	129.0	138.0					7																	129110495		2203	4300	6503	SO:0001587	stop_gained	57464							g.chr7:129110495C>G	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1883C>G	7.37:g.129110495C>G	ENSP00000249344:p.Ser628*					FAM40B_uc003vow.2_Nonsense_Mutation_p.S628*|FAM40B_uc011koz.1_Nonsense_Mutation_p.S120*	p.S628*	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			18	1923	+			628					Q8WUZ4	Nonsense_Mutation	SNP	ENST00000249344.2	37	c.1883C>G	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	37	6.089416	0.97271	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.74	4.86	0.63082	.	0.121415	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-3.1967	13.8539	0.63515	0.0:0.9272:0.0:0.0728	.	.	.	.	X	628	.	ENSP00000249344:S628X	S	+	2	0	FAM40B	128897731	0.998000	0.40836	0.939000	0.37840	0.863000	0.49368	3.437000	0.52863	1.439000	0.47511	0.650000	0.86243	TCA		0.463	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1		NM_001134336		4	42	0	0	0	0.009096	0	4	42		
AKR1B15	441282	broad.mit.edu	37	7	134261766	134261766	+	Missense_Mutation	SNP	A	A	G	rs372681162		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:134261766A>G	ENST00000457545.2	+	10	1137	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	AKR1B15_ENST00000423958.1_Missense_Mutation_p.M265V	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	293							oxidoreductase activity (GO:0016491)	p.M311V(1)|p.M293V(1)|p.M265V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CCCCAAGTCTATGACACCAGC	0.517																																						uc011kpr.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)	1						c.(877-879)ATG>GTG		aldo-keto reductase family 1, member B15		A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	191.0	184.0	187.0		877	1.6	1.0	7		187	0,8600		0,0,4300	no	missense	AKR1B15	NM_001080538.2	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	293/345	134261766	1,13005	2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134261766A>G		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.877A>G	7.37:g.134261766A>G	ENSP00000389289:p.Met293Val					AKR1B15_uc011kps.1_Missense_Mutation_p.M265V	p.M293V	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			10	1176	+			293			NADP (By similarity).		C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.877A>G	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.370306	0.00209	2.27E-4	0.0	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.23348	1.91;1.91	3.64	1.65	0.23941	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.02533	0.0077	N	0.00011	-2.985	0.19945	N	0.999944	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42531	-0.9446	9	0.02654	T	1	.	4.4145	0.11450	0.2087:0.0:0.6167:0.1746	.	265;293	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	V	293;265	ENSP00000389289:M293V;ENSP00000397009:M265V	ENSP00000397009:M265V	M	+	1	0	AKR1B15	133912306	0.840000	0.29493	0.997000	0.53966	0.284000	0.27059	1.050000	0.30404	0.726000	0.32339	-0.326000	0.08463	ATG		0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2				5	120	0	0	0	0.001168	0	5	120		
TAS2R60	338398	broad.mit.edu	37	7	143141091	143141091	+	Silent	SNP	C	C	T	rs576422213		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr7:143141091C>T	ENST00000332690.1	+	1	546	c.546C>T	c.(544-546)ggC>ggT	p.G182G	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	182					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G182G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATGTCACTGGCGATAGCATAC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		22052	0.0		0.0	False		,,,				2504	0.001					uc011ktg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(6)	6						c.(544-546)GGC>GGT		taste receptor, type 2, member 60							164.0	159.0	161.0					7																	143141091		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141091C>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.546C>T	7.37:g.143141091C>T						uc003wda.2_Intron	p.G182G	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	546	+	Melanoma(164;0.172)		182			Extracellular (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.546C>T	CCDS5885.1																																																																																				0.408	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1				11	226	0	0	0	0.008291	0	11	226		
CLN8	2055	broad.mit.edu	37	8	1728460	1728460	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:1728460G>A	ENST00000331222.4	+	3	835	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	196	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L196L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACCAGTGGCTGATGATTCACA	0.517																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(586-588)CTG>CTA		ceroid-lipofuscinosis, neuronal 8							196.0	135.0	156.0					8																	1728460		2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728460G>A	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.588G>A	8.37:g.1728460G>A							p.L196L	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	893	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	196			TLC.		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.588G>A	CCDS5956.1																																																																																				0.517	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2		NM_018941		19	54	0	0	0	0.007413	0	19	54		
MCPH1	79648	broad.mit.edu	37	8	6312749	6312749	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:6312749G>C	ENST00000344683.5	+	9	1987	c.1911G>C	c.(1909-1911)ttG>ttC	p.L637F		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	637					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.L637F(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGAGGAATTGAAGAAAAGTG	0.368																																					Colon(95;1448 1467 8277 34473 35819)	uc003wqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(1909-1911)TTG>TTC		microcephalin							128.0	118.0	121.0					8																	6312749		1833	4094	5927	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6312749G>C	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1911G>C	8.37:g.6312749G>C	ENSP00000342924:p.Leu637Phe						p.L637F	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	9	1979	+		Hepatocellular(245;0.0663)	637					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1911G>C	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	2.085	-0.409801	0.04799	.	.	ENSG00000147316	ENST00000344683	T	0.04809	3.55	5.76	-10.3	0.00346	.	0.989728	0.08219	N	0.979478	T	0.02304	0.0071	N	0.22421	0.69	0.09310	N	0.999999	P	0.34780	0.468	B	0.24541	0.054	T	0.25537	-1.0129	10	0.40728	T	0.16	-0.5594	8.6136	0.33817	0.2177:0.422:0.3602:0.0	.	637	Q8NEM0	MCPH1_HUMAN	F	637	ENSP00000342924:L637F	ENSP00000342924:L637F	L	+	3	2	MCPH1	6300157	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.854000	0.01664	-2.376000	0.00598	-0.302000	0.09304	TTG		0.368	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2		NM_024596		24	106	0	0	0	0.002299	0	24	106		
C8orf74	203076	broad.mit.edu	37	8	10555323	10555323	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:10555323G>A	ENST00000304519.5	+	3	485	c.456G>A	c.(454-456)ccG>ccA	p.P152P	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	152								p.P152P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ATCCCCTCCCGCTGGCCGAGG	0.652																																						uc003wtd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(454-456)CCG>CCA		hypothetical protein LOC203076							75.0	80.0	78.0					8																	10555323		2126	4227	6353	SO:0001819	synonymous_variant	203076							g.chr8:10555323G>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.456G>A	8.37:g.10555323G>A						C8orf74_uc003wte.1_RNA	p.P152P	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	485	+			152					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.456G>A	CCDS47800.1																																																																																				0.652	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1		NM_001040032		17	36	0	0	0	0.008871	0	17	36		
UNC5D	137970	broad.mit.edu	37	8	35541109	35541109	+	Silent	SNP	C	C	T	rs374876822		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:35541109C>T	ENST00000404895.2	+	5	943	c.615C>T	c.(613-615)gaC>gaT	p.D205D	UNC5D_ENST00000420357.1_Silent_p.D205D|UNC5D_ENST00000453357.2_Silent_p.D200D|UNC5D_ENST00000416672.1_Silent_p.D205D|UNC5D_ENST00000287272.2_Silent_p.D205D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	205	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D200D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGAACAAGACGAGAACATTG	0.463																																						uc003xjr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(613-615)GAC>GAT		unc-5 homolog D precursor		C		0,4406		0,0,2203	99.0	86.0	91.0		615	1.7	1.0	8		91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UNC5D	NM_080872.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		205/954	35541109	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541109C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.615C>T	8.37:g.35541109C>T						UNC5D_uc003xjs.1_Silent_p.D200D|UNC5D_uc003xjt.1_Translation_Start_Site	p.D205D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	943	+			205			Extracellular (Potential).|Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.615C>T	CCDS6093.2																																																																																				0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2				3	27	0	0	0	0.009096	0	3	27		
ADAM2	2515	broad.mit.edu	37	8	39604118	39604118	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:39604118T>A	ENST00000265708.4	-	19	2150	c.2047A>T	c.(2047-2049)Aaa>Taa	p.K683*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.K527*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.K664*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.K620*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	683					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K683*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCATTGGTTTGGAATGGTAA	0.294																																						uc003xnj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(2047-2049)AAA>TAA		ADAM metallopeptidase domain 2 proprotein							95.0	98.0	97.0					8																	39604118		2203	4298	6501	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39604118T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2047A>T	8.37:g.39604118T>A	ENSP00000265708:p.Lys683*					ADAM2_uc003xnk.2_Nonsense_Mutation_p.K664*|ADAM2_uc011lck.1_Nonsense_Mutation_p.K620*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.K527*	p.K683*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	19	2122	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	683			Extracellular (Potential).		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.2047A>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712280	0.68730	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	3.57	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8033	0.23764	0.0:0.0:0.2402:0.7598	.	.	.	.	X	664;527;683;620	.	ENSP00000265708:K683X	K	-	1	0	ADAM2	39723275	0.003000	0.15002	0.001000	0.08648	0.041000	0.13682	0.714000	0.25808	0.684000	0.31448	0.477000	0.44152	AAA		0.294	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464		17	106	0	0	0	0.00499	0	17	106		
CHRNB3	1142	broad.mit.edu	37	8	42585836	42585836	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:42585836C>A	ENST00000289957.2	+	4	477	c.349C>A	c.(349-351)Ctc>Atc	p.L117I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	117					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.L117I(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TGACATAGTTCTCTTTGAAAA	0.398																																						uc003xpi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(349-351)CTC>ATC		cholinergic receptor, nicotinic, beta							92.0	87.0	89.0					8																	42585836		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42585836C>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.349C>A	8.37:g.42585836C>A	ENSP00000289957:p.Leu117Ile						p.L117I	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	477	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	117			Extracellular (Potential).		Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.349C>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.103968	0.76983	.	.	ENSG00000147432	ENST00000289957	D	0.84800	-1.9	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	M	0.78344	2.41	0.58432	D	0.999994	D	0.60160	0.987	D	0.91635	0.999	D	0.93141	0.6541	10	0.87932	D	0	.	18.1945	0.89817	0.0:1.0:0.0:0.0	.	117	Q05901	ACHB3_HUMAN	I	117	ENSP00000289957:L117I	ENSP00000289957:L117I	L	+	1	0	CHRNB3	42704993	0.836000	0.29430	1.000000	0.80357	0.990000	0.78478	1.521000	0.35910	2.651000	0.90000	0.650000	0.86243	CTC		0.398	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1				14	34	1	0	9.31168e-06	0.001855	9.80424e-06	14	34		
EFCAB1	79645	broad.mit.edu	37	8	49642408	49642408	+	Missense_Mutation	SNP	C	C	G	rs145734570	byFrequency	TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:49642408C>G	ENST00000262103.3	-	4	422	c.342G>C	c.(340-342)ttG>ttC	p.L114F	EFCAB1_ENST00000433756.1_Missense_Mutation_p.L62F|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.L62F	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	114	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.L114F(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CGTCACCATTCAAATCAAACA	0.348																																						uc003xqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(340-342)TTG>TTC		EF-hand calcium binding domain 1 isoform a							70.0	65.0	67.0					8																	49642408		2201	4298	6499	SO:0001583	missense	79645						calcium ion binding	g.chr8:49642408C>G		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.342G>C	8.37:g.49642408C>G	ENSP00000262103:p.Leu114Phe					EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.L62F|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	p.L114F	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			4	502	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	114			2 (Potential).|EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.342G>C	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598884|3.598884	0.66332|0.66332	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000522254|ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	.|T;T;T	.|0.71934	.|-0.61;-0.61;-0.61	5.46|5.46	3.64|3.64	0.41730|0.41730	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79997|0.79997	0.4543|0.4543	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999999|0.999999	.|B;D	.|0.76494	.|0.343;0.999	.|B;D	.|0.76071	.|0.211;0.987	T|T	0.79546|0.79546	-0.1759|-0.1759	5|10	.|0.66056	.|D	.|0.02	.|.	9.1361|9.1361	0.36875|0.36875	0.0:0.7719:0.1477:0.0804|0.0:0.7719:0.1477:0.0804	.|.	.|62;114	.|Q9HAE3-2;Q9HAE3	.|.;EFCB1_HUMAN	Q|F	32|62;114;114;62	.|ENSP00000400873:L62F;ENSP00000262103:L114F;ENSP00000430765:L62F	.|ENSP00000262103:L114F	E|L	-|-	1|3	0|2	EFCAB1|EFCAB1	49804961|49804961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.767000|1.767000	0.38501|0.38501	0.837000|0.837000	0.34925|0.34925	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.348	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1		NM_024593		5	56	0	0	0	0.000602	0	5	56		
TGS1	96764	broad.mit.edu	37	8	56698335	56698335	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56698335A>T	ENST00000260129.5	+	3	701	c.224A>T	c.(223-225)cAt>cTt	p.H75L		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	75					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.H75L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCAGAATCACATGACAGCAAA	0.423																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(223-225)CAT>CTT		trimethylguanosine synthase homolog							148.0	134.0	139.0					8																	56698335		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56698335A>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.224A>T	8.37:g.56698335A>T	ENSP00000260129:p.His75Leu					TGS1_uc010lyh.2_5'UTR	p.H75L	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		3	611	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	75					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.224A>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.248022	0.22880	.	.	ENSG00000137574	ENST00000260129	T	0.16196	2.36	5.8	-11.6	0.00059	.	1.366360	0.04671	N	0.410669	T	0.14184	0.0343	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	10	0.48119	T	0.1	4.9934	6.1986	0.20563	0.5765:0.1621:0.1474:0.1141	.	75	Q96RS0	TGS1_HUMAN	L	75	ENSP00000260129:H75L	ENSP00000260129:H75L	H	+	2	0	TGS1	56860889	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.795000	0.00764	-3.962000	0.00087	-0.766000	0.03442	CAT		0.423	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		31	55	0	0	0	0.009535	0	31	55		
TGS1	96764	broad.mit.edu	37	8	56715061	56715061	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:56715061A>C	ENST00000260129.5	+	9	2372	c.1895A>C	c.(1894-1896)aAt>aCt	p.N632T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	632	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.N632T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			aaaaagGTGAATGGTCTGCCT	0.388																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(1894-1896)AAT>ACT		trimethylguanosine synthase homolog							99.0	91.0	94.0					8																	56715061		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56715061A>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1895A>C	8.37:g.56715061A>C	ENSP00000260129:p.Asn632Thr					TGS1_uc010lyh.2_Missense_Mutation_p.N536T	p.N632T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		9	2282	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	632			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1895A>C	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	6.481	0.456842	0.12283	.	.	ENSG00000137574	ENST00000260129	T	0.09538	2.97	5.96	0.871	0.19107	.	0.803364	0.12324	N	0.479041	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B;B	0.29037	0.231;0.231	B;B	0.23716	0.048;0.048	T	0.40365	-0.9567	10	0.09590	T	0.72	-2.8735	0.9449	0.01363	0.423:0.0964:0.2147:0.2658	.	632;632	B2RBJ7;Q96RS0	.;TGS1_HUMAN	T	632	ENSP00000260129:N632T	ENSP00000260129:N632T	N	+	2	0	TGS1	56877615	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	0.245000	0.18142	-0.071000	0.12886	0.528000	0.53228	AAT		0.388	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		11	49	0	0	0	0.008291	0	11	49		
OSR2	116039	broad.mit.edu	37	8	99961627	99961627	+	Silent	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:99961627C>A	ENST00000297565.4	+	2	943	c.447C>A	c.(445-447)ggC>ggA	p.G149G	OSR2_ENST00000523368.1_Silent_p.G149G|OSR2_ENST00000435298.2_Silent_p.G149G|OSR2_ENST00000522510.1_Silent_p.G149G|OSR2_ENST00000457907.2_Silent_p.G270G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	149					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.G149G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCATCTCGGGCCTCAGTAAAT	0.532																																						uc003yir.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(445-447)GGC>GGA		odd-skipped related 2 isoform a							106.0	115.0	112.0					8																	99961627		1929	4144	6073	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961627C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.447C>A	8.37:g.99961627C>A						OSR2_uc010mbn.2_Silent_p.G149G|OSR2_uc003yiq.2_Silent_p.G149G|OSR2_uc011lgx.1_Silent_p.G270G	p.G149G	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	982	+	Breast(36;4.14e-07)		149					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.447C>A	CCDS47901.1																																																																																				0.532	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1		NM_053001		14	218	1	0	0.00316338	0.003163	0.0032251	14	218		
ATP6V1C1	528	broad.mit.edu	37	8	104054610	104054610	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:104054610G>C	ENST00000395862.3	+	3	334	c.175G>C	c.(175-177)Gct>Cct	p.A59P	ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.A59P|ATP6V1C1_ENST00000521514.1_5'UTR	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	59					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)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.A59P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGATGAACTGGCTAAACTGGA	0.368																																						uc003ykz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)GCT>CCT		ATPase, H+ transporting, lysosomal V1 subunit							226.0	215.0	219.0					8																	104054610		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104054610G>C	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.175G>C	8.37:g.104054610G>C	ENSP00000379203:p.Ala59Pro					ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.A59P|ATP6V1C1_uc011lhl.1_Intron	p.A59P	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		3	420	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		59						Missense_Mutation	SNP	ENST00000395862.3	37	c.175G>C	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833971	0.91036	.	.	ENSG00000155097	ENST00000395862;ENST00000518738	T;T	0.45668	0.89;0.89	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.47716	1.5	0.80722	D	1	P	0.38565	0.637	B	0.40101	0.319	T	0.34850	-0.9812	10	0.51188	T	0.08	.	19.5786	0.95455	0.0:0.0:1.0:0.0	.	59	P21283	VATC1_HUMAN	P	59	ENSP00000379203:A59P;ENSP00000430282:A59P	ENSP00000379203:A59P	A	+	1	0	ATP6V1C1	104123786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.277000	0.78572	2.726000	0.93360	0.655000	0.94253	GCT		0.368	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1		NM_001695		8	192	0	0	0	0.004482	0	8	192		
PKHD1L1	93035	broad.mit.edu	37	8	110412320	110412320	+	Missense_Mutation	SNP	A	A	G	rs373886765		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:110412320A>G	ENST00000378402.5	+	13	1132	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	343	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K345R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAGGCCTGAAGCTTGAGGTG	0.408										HNSCC(38;0.096)																												uc003yne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1027-1029)AAG>AGG		fibrocystin L precursor		A	ARG/LYS	1,3717		0,1,1858	125.0	124.0	124.0		1028	4.1	1.0	8		124	0,8206		0,0,4103	no	missense	PKHD1L1	NM_177531.4	26	0,1,5961	GG,GA,AA		0.0,0.0269,0.0084	probably-damaging	343/4244	110412320	1,11923	1859	4103	5962	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412320A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1028A>G	8.37:g.110412320A>G	ENSP00000367655:p.Lys343Arg	HNSCC(38;0.096)					p.K343R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1132	+			343			Extracellular (Potential).|IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1028A>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082391	0.76528	2.69E-4	0.0	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.3	4.13	0.48395	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	L	0.51422	1.61	0.34831	D	0.739733	D	0.58620	0.983	P	0.56751	0.805	D	0.85855	0.1406	10	0.22706	T	0.39	.	10.5852	0.45278	0.8378:0.1622:0.0:0.0	.	343	Q86WI1	PKHL1_HUMAN	R	343	ENSP00000367655:K343R	ENSP00000367655:K343R	K	+	2	0	PKHD1L1	110481496	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	4.100000	0.57762	0.822000	0.34565	0.460000	0.39030	AAG		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		6	172	0	0	0	0.001168	0	6	172		
CSMD3	114788	broad.mit.edu	37	8	113358347	113358347	+	Missense_Mutation	SNP	T	T	G	rs200768306		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:113358347T>G	ENST00000297405.5	-	41	6665	c.6421A>C	c.(6421-6423)Ata>Cta	p.I2141L	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071L|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037L|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2141	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2141L(1)|p.I2101L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAGATTTATTGTCCATGTG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6421-6423)ATA>CTA		CUB and Sushi multiple domains 3 isoform 1							107.0	111.0	110.0					8																	113358347		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358347T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6421A>C	8.37:g.113358347T>G	ENSP00000297405:p.Ile2141Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I1343L|CSMD3_uc003ynt.2_Missense_Mutation_p.I2101L|CSMD3_uc011lhx.1_Missense_Mutation_p.I2037L	p.I2141L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			41	6580	-			2141			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6421A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990116	0.54041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.39	4.24	0.50183	CUB (5);	0.131978	0.51477	D	0.000096	T	0.39358	0.1075	M	0.73319	2.225	0.35810	D	0.823774	B;B;B	0.32800	0.167;0.053;0.385	B;B;B	0.38842	0.126;0.028;0.283	T	0.48103	-0.9064	10	0.36615	T	0.2	.	8.5271	0.33311	0.0:0.1478:0.0:0.8522	.	2037;2141;2101	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2101;2141;1411;2037;2071	ENSP00000345799:I2101L;ENSP00000297405:I2141L;ENSP00000341558:I1411L;ENSP00000412263:I2037L;ENSP00000343124:I2071L	ENSP00000297405:I2141L	I	-	1	0	CSMD3	113427523	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.493000	0.60341	1.062000	0.40625	0.528000	0.53228	ATA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		45	167	0	0	0	0.00361	0	45	167		
TRPS1	7227	broad.mit.edu	37	8	116599614	116599614	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:116599614G>C	ENST00000220888.5	-	4	2434	c.2275C>G	c.(2275-2277)Cca>Gca	p.P759A	TRPS1_ENST00000520276.1_Missense_Mutation_p.P763A|TRPS1_ENST00000519674.1_Missense_Mutation_p.P759A|TRPS1_ENST00000395715.3_Missense_Mutation_p.P772A|TRPS1_ENST00000519076.1_Missense_Mutation_p.P513A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	759	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P772A(1)|p.P759A(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCAGAAACTGGCTCTCCCATT	0.493									Langer-Giedion syndrome																													uc003ynz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2275-2277)CCA>GCA		zinc finger transcription factor TRPS1							232.0	236.0	235.0					8																	116599614		1920	4138	6058	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599614G>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2275C>G	8.37:g.116599614G>C	ENSP00000220888:p.Pro759Ala					TRPS1_uc011lhy.1_Missense_Mutation_p.P763A|TRPS1_uc003yny.2_Missense_Mutation_p.P772A|TRPS1_uc010mcy.2_Missense_Mutation_p.P759A	p.P759A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2734	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		759			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2275C>G		.	.	.	.	.	.	.	.	.	.	G	10.64	1.406793	0.25378	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98221	-4.8;-4.77;-4.79;-4.77;1.04	5.67	1.73	0.24493	.	0.547984	0.19607	N	0.110243	D	0.92453	0.7604	N	0.14661	0.345	0.24797	N	0.992729	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.85181	0.1004	10	0.33141	T	0.24	.	3.0119	0.06047	0.1944:0.1193:0.5569:0.1294	.	763;759;772	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	A	772;759;513;763;759	ENSP00000379065:P772A;ENSP00000220888:P759A;ENSP00000428910:P513A;ENSP00000428680:P763A;ENSP00000429174:P759A	ENSP00000220888:P759A	P	-	1	0	TRPS1	116668789	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	0.772000	0.26647	0.696000	0.31696	0.655000	0.94253	CCA		0.493	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		35	439	0	0	0	0.004878	0	35	439		
HSF1	3297	broad.mit.edu	37	8	145535686	145535686	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145535686G>C	ENST00000528838.1	+	9	1058	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	HSF1_ENST00000400780.4_Missense_Mutation_p.E235Q|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	300	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E300Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGTCAAGGAGGAGCCCCCCAG	0.701																																						uc003zbt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(898-900)GAG>CAG		heat shock transcription factor 1							10.0	11.0	11.0					8																	145535686		2177	4267	6444	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535686G>C	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.898G>C	8.37:g.145535686G>C	ENSP00000431512:p.Glu300Gln					HSF1_uc003zbu.3_RNA	p.E300Q	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1068	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		300	E->A: Derepression of transcriptional activity at control temperature by 11%.		Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.898G>C	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	g	31	5.088669	0.94100	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	5.66	5.66	0.87406	Vertebrate heat shock transcription factor (1);	0.117204	0.56097	D	0.000037	T	0.79399	0.4439	M	0.78801	2.425	0.51482	D	0.999929	D	0.67145	0.996	D	0.68765	0.96	T	0.80926	-0.1164	9	0.62326	D	0.03	-19.0659	17.2418	0.87015	0.0:0.0:1.0:0.0	.	300	Q00613	HSF1_HUMAN	Q	300;235	.	ENSP00000383590:E235Q	E	+	1	0	HSF1	145506494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.875000	0.75551	2.663000	0.90544	0.556000	0.70494	GAG		0.701	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1		NM_005526		5	13	0	0	0	0.000602	0	5	13		
KIFC2	90990	broad.mit.edu	37	8	145693255	145693255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:145693255C>G	ENST00000301332.2	+	7	1072	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|KIFC2_ENST00000301331.5_5'UTR|CYHR1_ENST00000306145.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	232	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S232*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCGACGGACTCAGAGAAAAGG	0.667											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(694-696)TCA>TGA		kinesin family member C2							46.0	51.0	49.0					8																	145693255		2203	4300	6503	SO:0001587	stop_gained	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693255C>G	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.695C>G	8.37:g.145693255C>G	ENSP00000301332:p.Ser232*		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.S232*	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		7	760	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		232			Potential.|Gln-rich.		E9PHB2|Q96NN6	Nonsense_Mutation	SNP	ENST00000301332.2	37	c.695C>G	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	C	40	8.450779	0.98817	.	.	ENSG00000167702	ENST00000301332	.	.	.	5.1	5.1	0.69264	.	0.000000	0.29080	N	0.013210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-12.0693	16.3334	0.83051	0.0:1.0:0.0:0.0	.	.	.	.	X	232	.	ENSP00000301332:S232X	S	+	2	0	KIFC2	145664063	0.000000	0.05858	0.995000	0.50966	0.947000	0.59692	0.705000	0.25675	2.516000	0.84829	0.655000	0.94253	TCA		0.667	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754		4	59	0	0	0	0.000602	0	4	59		
ZNF16	7564	broad.mit.edu	37	8	146157055	146157055	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr8:146157055C>A	ENST00000276816.4	-	4	1304	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	ZNF16_ENST00000394909.2_Missense_Mutation_p.G373V	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	373	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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)	p.G373V(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGGCTTCTCTCCTGTGTGAGT	0.532																																						uc003zet.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)	5						c.(1117-1119)GGA>GTA		zinc finger protein 16							89.0	91.0	90.0					8																	146157055		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157055C>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1118G>T	8.37:g.146157055C>A	ENSP00000276816:p.Gly373Val					ZNF16_uc003zeu.2_Missense_Mutation_p.G373V	p.G373V	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	1305	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	373					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1118G>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383334	0.61845	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.23552	1.9;1.9	3.88	3.88	0.44766	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	M	0.67953	2.075	0.54753	D	0.999981	D	0.69078	0.997	D	0.64595	0.927	T	0.45425	-0.9262	9	0.87932	D	0	.	11.424	0.49998	0.0:0.8153:0.1847:0.0	.	373	P17020	ZNF16_HUMAN	V	373	ENSP00000276816:G373V;ENSP00000378369:G373V	ENSP00000276816:G373V	G	-	2	0	ZNF16	146127859	0.283000	0.24277	0.983000	0.44433	0.957000	0.61999	1.918000	0.40006	1.985000	0.57927	0.462000	0.41574	GGA		0.532	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1		NM_006958		4	115	1	0	0.00909568	0.009096	0.00918356	4	115		
MLLT3	4300	broad.mit.edu	37	9	20620762	20620762	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:20620762G>A	ENST00000380338.4	-	2	370	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MLLT3_ENST00000429426.2_Silent_p.F25F|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	28	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.F28F(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AGTCGTGGGTGAAGCCCTCCA	0.602			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(1)	3						c.(82-84)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia							124.0	120.0	121.0					9																	20620762		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20620762G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.84C>T	9.37:g.20620762G>A						MLLT3_uc011lne.1_5'UTR|MLLT3_uc011lnf.1_Silent_p.F25F|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_5'UTR	p.F28F	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	2	343	-			28			YEATS.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.84C>T	CCDS6494.1																																																																																				0.602	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		21	119	0	0	0	0.00333	0	21	119		
ZCCHC7	84186	broad.mit.edu	37	9	37126516	37126516	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:37126516G>C	ENST00000336755.5	+	2	293	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.E62Q|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	63						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E63Q(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TGGGAATTCGGAATCTTCGAG	0.423																																						uc003zzq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(187-189)GAA>CAA		zinc finger, CCHC domain containing 7							145.0	142.0	143.0					9																	37126516		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126516G>C	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.187G>C	9.37:g.37126516G>C	ENSP00000337839:p.Glu63Gln					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.E62Q|ZCCHC7_uc010mlt.2_Missense_Mutation_p.E62Q|ZCCHC7_uc003zzs.1_Missense_Mutation_p.E62Q	p.E63Q	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	360	+			63					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.187G>C	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505797	0.26949	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.46451	1.47;0.87	5.64	4.74	0.60224	.	0.245514	0.39020	N	0.001481	T	0.45094	0.1325	L	0.56769	1.78	0.80722	D	1	P;P	0.51537	0.946;0.787	P;B	0.46253	0.509;0.241	T	0.39375	-0.9617	10	0.33141	T	0.24	-2.0094	14.4086	0.67101	0.0718:0.0:0.9282:0.0	.	63;63	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	Q	63;62	ENSP00000337839:E63Q;ENSP00000316365:E62Q	ENSP00000316365:E62Q	E	+	1	0	ZCCHC7	37116516	0.211000	0.23529	0.997000	0.53966	0.036000	0.12997	1.319000	0.33655	1.520000	0.48965	0.637000	0.83480	GAA		0.423	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2		NM_032226		10	226	0	0	0	0.006214	0	10	226		
VPS13A	23230	broad.mit.edu	37	9	79890500	79890500	+	Silent	SNP	A	A	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:79890500A>C	ENST00000360280.3	+	25	2859	c.2599A>C	c.(2599-2601)Aga>Cga	p.R867R	VPS13A_ENST00000376634.4_Silent_p.R867R|VPS13A_ENST00000357409.5_Silent_p.R867R|VPS13A_ENST00000376636.3_Silent_p.R867R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	867					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R867R(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTCGAACCAGAAAGTTACA	0.348																																						uc004akr.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(2599-2601)AGA>CGA		vacuolar protein sorting 13A isoform A							103.0	112.0	109.0					9																	79890500		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79890500A>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2599A>C	9.37:g.79890500A>C						VPS13A_uc004akp.3_Silent_p.R867R|VPS13A_uc004akq.3_Silent_p.R867R|VPS13A_uc004aks.2_Silent_p.R867R	p.R867R	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			25	2859	+			867					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.2599A>C	CCDS6655.1																																																																																				0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186		30	170	0	0	0	0.00632	0	30	170		
CEP78	84131	broad.mit.edu	37	9	80881397	80881397	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:80881397C>G	ENST00000424347.2	+	15	2126	c.1837C>G	c.(1837-1839)Ctc>Gtc	p.L613V	CEP78_ENST00000376597.4_Missense_Mutation_p.L630V|CEP78_ENST00000376598.2_Missense_Mutation_p.L629V|CEP78_ENST00000277082.5_Missense_Mutation_p.L613V|CEP78_ENST00000415759.2_Missense_Mutation_p.L614V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	613					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.L613V(1)|p.L630V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TCCTTTGCCTCTCGACTCCTT	0.428																																						uc004akx.2		NaN																	2	Substitution - Missense(2)	p.L613L(1)	urinary_tract(2)	ovary(1)	1						c.(1837-1839)CTC>GTC		centrosomal protein 78kDa isoform b							59.0	58.0	58.0					9																	80881397		1864	4091	5955	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80881397C>G	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1837C>G	9.37:g.80881397C>G	ENSP00000411284:p.Leu613Val					CEP78_uc004aky.3_Missense_Mutation_p.L630V|CEP78_uc010mpp.2_Missense_Mutation_p.L614V|CEP78_uc004akz.1_Missense_Mutation_p.L101V	p.L613V	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			15	2113	+			613					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1837C>G		.	.	.	.	.	.	.	.	.	.	C	10.18	1.279202	0.23307	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.38560	1.17;1.35;1.13;1.16;1.15	6.07	2.08	0.27032	.	0.465163	0.20310	N	0.094857	T	0.31009	0.0783	L	0.40543	1.245	0.22096	N	0.99936	B;B;B	0.12630	0.002;0.006;0.003	B;B;B	0.14578	0.003;0.011;0.003	T	0.18304	-1.0341	10	0.28530	T	0.3	-0.7679	9.7381	0.40401	0.0:0.4455:0.4769:0.0776	.	614;630;613	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	V	613;629;614;630;613;629	ENSP00000411284:L613V;ENSP00000399286:L614V;ENSP00000365782:L630V;ENSP00000277082:L613V;ENSP00000365783:L629V	ENSP00000277082:L613V	L	+	1	0	CEP78	80071217	0.969000	0.33509	0.714000	0.30535	0.757000	0.42996	0.243000	0.18106	0.396000	0.25283	-0.165000	0.13383	CTC		0.428	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2		XM_095991		8	62	0	0	0	0.004482	0	8	62		
SPATA31D1	389763	broad.mit.edu	37	9	84608089	84608089	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:84608089A>G	ENST00000344803.2	+	4	2751	c.2704A>G	c.(2704-2706)Atg>Gtg	p.M902V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	902					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.M902V(2)									CAAACAAAAGATGTTGGAAGC	0.433																																						uc004amn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2704-2706)ATG>GTG		hypothetical protein LOC389763							62.0	55.0	57.0					9																	84608089		1842	4082	5924	SO:0001583	missense	389763					integral to membrane		g.chr9:84608089A>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2704A>G	9.37:g.84608089A>G	ENSP00000341988:p.Met902Val						p.M902V	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2751	+			902						Missense_Mutation	SNP	ENST00000344803.2	37	c.2704A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	5.173	0.217411	0.09810	.	.	ENSG00000214929	ENST00000344803	T	0.53206	0.63	3.45	0.803	0.18691	.	2.229840	0.01569	N	0.020485	T	0.35393	0.0930	L	0.42581	1.335	0.09310	N	1	B	0.22983	0.078	B	0.24541	0.054	T	0.12553	-1.0543	10	0.02654	T	1	2.7162	3.9728	0.09460	0.5691:0.2193:0.0:0.2116	.	902	Q6ZQQ2	F75D1_HUMAN	V	902	ENSP00000341988:M902V	ENSP00000341988:M902V	M	+	1	0	FAM75D1	83797909	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.681000	0.05191	0.052000	0.16007	0.529000	0.55759	ATG		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670		4	63	0	0	0	0.000602	0	4	63		
PTCH1	5727	broad.mit.edu	37	9	98239043	98239043	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:98239043C>G	ENST00000331920.6	-	11	1899	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q	PTCH1_ENST00000375274.2_Missense_Mutation_p.E533Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E383Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E468Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E383Q|PTCH1_ENST00000430669.2_Missense_Mutation_p.E468Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E383Q	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	534	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E533Q(2)|p.E534Q(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGCATTACCTCAAAAGGGATT	0.423																																						uc004avk.3		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1600-1602)GAG>CAG		patched isoform L							117.0	105.0	109.0					9																	98239043		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239043C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1600G>C	9.37:g.98239043C>G	ENSP00000332353:p.Glu534Gln					PTCH1_uc010mro.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrp.2_Missense_Mutation_p.E383Q|PTCH1_uc010mrq.2_Missense_Mutation_p.E383Q|PTCH1_uc004avl.3_Missense_Mutation_p.E383Q|PTCH1_uc010mrr.2_Missense_Mutation_p.E468Q|PTCH1_uc004avm.3_Missense_Mutation_p.E533Q|PTCH1_uc010mrs.1_Missense_Mutation_p.E202Q	p.E534Q	NM_000264	NP_000255	Q13635	PTC1_HUMAN			11	1788	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	534			SSD.|Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1600G>C	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150643	0.37923	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.54	5.54	0.83059	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	L	0.28344	0.845	0.80722	D	1	B;B;B;B	0.25105	0.042;0.021;0.054;0.118	B;B;B;B	0.26416	0.069;0.039;0.061;0.065	D	0.88025	0.2771	10	0.34782	T	0.22	-31.6465	19.6787	0.95950	0.0:1.0:0.0:0.0	.	383;468;533;534	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	Q	534;468;383;383;468;383;533;199	ENSP00000332353:E534Q;ENSP00000389744:E468Q;ENSP00000399981:E383Q;ENSP00000396135:E383Q;ENSP00000410287:E468Q;ENSP00000414823:E383Q;ENSP00000364423:E533Q;ENSP00000364420:E199Q	ENSP00000332353:E534Q	E	-	1	0	PTCH1	97278864	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.511000	0.60462	2.884000	0.98904	0.655000	0.94253	GAG		0.423	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		4	23	0	0	0	0.000602	0	4	23		
EPB41L4B	54566	broad.mit.edu	37	9	112018480	112018480	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112018480G>C	ENST00000374566.3	-	9	1382	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.L289V	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	289	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.L289V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCAGTCCAAGAGAATATTCA	0.368																																						uc004bdz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(865-867)CTT>GTT		erythrocyte membrane protein band 4.1 like 4B							113.0	110.0	111.0					9																	112018480		1898	4124	6022	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018480G>C	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.865C>G	9.37:g.112018480G>C	ENSP00000363694:p.Leu289Val					EPB41L4B_uc004bea.2_Missense_Mutation_p.L289V	p.L289V	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			9	1160	-			289			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.865C>G	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363443	0.82353	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.92249	-3.0;-3.0	5.92	5.92	0.95590	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.35970	N	0.002869	D	0.96451	0.8842	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.966;0.997	D	0.96255	0.9186	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	289;289	Q9H329-2;Q9H329	.;E41LB_HUMAN	V	289;289;211	ENSP00000363694:L289V;ENSP00000363685:L289V	ENSP00000311274:L211V	L	-	1	0	EPB41L4B	111058301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.030000	0.88816	2.822000	0.97130	0.650000	0.86243	CTT		0.368	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424		30	159	0	0	0	0.002836	0	30	159		
PTPN3	5774	broad.mit.edu	37	9	112185044	112185044	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:112185044C>G	ENST00000374541.2	-	13	1194	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000412145.1_Missense_Mutation_p.E233Q|PTPN3_ENST00000446349.1_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	364					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.E364*(1)|p.E364Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCTTGGTTTCTAAGTGCTCC	0.448																																						uc004bed.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|large_intestine(1)	ovary(3)	3						c.(1090-1092)GAA>CAA		protein tyrosine phosphatase, non-receptor type							203.0	188.0	193.0					9																	112185044		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185044C>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1090G>C	9.37:g.112185044C>G	ENSP00000363667:p.Glu364Gln					PTPN3_uc004beb.2_Missense_Mutation_p.E233Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.E77Q|PTPN3_uc011lwf.1_Intron	p.E364Q	NM_002829	NP_002820	P26045	PTN3_HUMAN			13	1202	-			364					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1090G>C	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634423	0.87660	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.60424	0.19;0.19	5.55	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.69895	-0.5021	10	0.37606	T	0.19	.	14.4967	0.67694	0.0:0.9294:0.0:0.0706	.	364	P26045	PTN3_HUMAN	Q	364;233;364	ENSP00000416654:E233Q;ENSP00000363667:E364Q	ENSP00000363667:E364Q	E	-	1	0	PTPN3	111224865	1.000000	0.71417	0.898000	0.35279	0.999000	0.98932	7.487000	0.81328	1.362000	0.46000	0.650000	0.86243	GAA		0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				5	212	0	0	0	0.001168	0	5	212		
SVEP1	79987	broad.mit.edu	37	9	113198707	113198707	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:113198707A>T	ENST00000401783.2	-	28	5053	c.4717T>A	c.(4717-4719)Tcc>Acc	p.S1573T	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1550T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1573	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.S1576T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGCTTATGGAGCCCACAAAA	0.473																																						uc010mtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)	7						c.(4717-4719)TCC>ACC		polydom							115.0	115.0	115.0					9																	113198707		1897	4120	6017	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113198707A>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4717T>A	9.37:g.113198707A>T	ENSP00000384917:p.Ser1573Thr						p.S1573T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			28	5054	-			1573			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4717T>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695047	0.48202	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.06528	3.29;3.29	5.8	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.051669	0.85682	D	0.000000	T	0.06050	0.0157	L	0.39085	1.19	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.26538	-1.0100	10	0.12430	T	0.62	.	12.4272	0.55553	0.8743:0.0:0.0:0.1257	.	1573	Q4LDE5	SVEP1_HUMAN	T	1573;1550	ENSP00000384917:S1573T;ENSP00000363593:S1550T	ENSP00000363593:S1550T	S	-	1	0	SVEP1	112238528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	1.007000	0.39238	0.533000	0.62120	TCC		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					4	104	0	0	0	0.009096	0	4	104		
DFNB31	25861	broad.mit.edu	37	9	117240927	117240927	+	Missense_Mutation	SNP	G	G	A	rs141863996		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:117240927G>A	ENST00000362057.3	-	2	911	c.743C>T	c.(742-744)tCg>tTg	p.S248L	DFNB31_ENST00000374057.3_Missense_Mutation_p.S248L|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	248					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S248L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCAGGCCCGAGGGTGGGGA	0.662																																						uc004biz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(742-744)TCG>TTG		CASK-interacting protein CIP98 isoform 1		G	,LEU/SER,LEU/SER	0,4406		0,0,2203	31.0	31.0	31.0		,743,743	3.5	0.0	9	dbSNP_134	31	1,8597	1.2+/-3.3	0,1,4298	yes	utr-5,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	,145,145	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,248/907,248/908	117240927	1,13003	2203	4299	6502	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240927G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.743C>T	9.37:g.117240927G>A	ENSP00000354623:p.Ser248Leu					DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.S248L|DFNB31_uc004bjb.2_Missense_Mutation_p.S248L	p.S248L	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			2	1392	-			248					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.743C>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865656	0.32977	0.0	1.16E-4	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.17213	3.02;2.29	5.41	3.47	0.39725	.	0.514979	0.20773	N	0.085934	T	0.10294	0.0252	L	0.36672	1.1	0.09310	N	1	P;B;B	0.44816	0.844;0.242;0.157	B;B;B	0.30316	0.114;0.023;0.023	T	0.27571	-1.0070	10	0.44086	T	0.13	-6.6304	10.453	0.44533	0.0773:0.2373:0.6854:0.0	.	248;248;248	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	L	248	ENSP00000354623:S248L;ENSP00000363170:S248L	ENSP00000354623:S248L	S	-	2	0	DFNB31	116280748	0.112000	0.22096	0.030000	0.17652	0.654000	0.38779	2.686000	0.46968	2.533000	0.85409	0.455000	0.32223	TCG		0.662	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404		7	11	0	0	0	0.008291	0	7	11		
PAPPA	5069	broad.mit.edu	37	9	118949701	118949701	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:118949701C>G	ENST00000328252.3	+	2	1053	c.684C>G	c.(682-684)ttC>ttG	p.F228L	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	228					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F228L(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGCATATTCAGCCCACTGA	0.547																																						uc004bjn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(682-684)TTC>TTG		pregnancy-associated plasma protein A							66.0	61.0	63.0					9																	118949701		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949701C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.684C>G	9.37:g.118949701C>G	ENSP00000330658:p.Phe228Leu					PAPPA_uc011lxp.1_Missense_Mutation_p.F21L|PAPPA_uc011lxq.1_Missense_Mutation_p.F21L	p.F228L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1065	+			228					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.684C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139764	0.56936	.	.	ENSG00000182752	ENST00000328252	T	0.01887	4.58	6.07	3.85	0.44370	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.09335	0.0230	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.12192	-1.0557	10	0.34782	T	0.22	-24.9518	11.0529	0.47901	0.0:0.7814:0.0:0.2186	.	228	Q13219	PAPP1_HUMAN	L	228	ENSP00000330658:F228L	ENSP00000330658:F228L	F	+	3	2	PAPPA	117989522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.327000	0.52045	1.512000	0.48834	0.655000	0.94253	TTC		0.547	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581		16	60	0	0	0	0.003163	0	16	60		
C5	727	broad.mit.edu	37	9	123716141	123716141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:123716141C>T	ENST00000223642.1	-	40	4797	c.4768G>A	c.(4768-4770)Gct>Act	p.A1590T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1590	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A1590T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCAGCAACAGCTTCCCCTGAG	0.383																																						uc004bkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(4768-4770)GCT>ACT		complement component 5 preproprotein	Eculizumab(DB01257)						99.0	93.0	95.0					9																	123716141		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123716141C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4768G>A	9.37:g.123716141C>T	ENSP00000223642:p.Ala1590Thr						p.A1590T	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	40	4798	-			1590			NTR.		Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4768G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913266	0.33815	.	.	ENSG00000106804	ENST00000223642	T	0.23348	1.91	6.07	5.12	0.69794	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	1.052390	0.07406	N	0.891484	T	0.41328	0.1154	L	0.48174	1.505	0.40787	D	0.983226	D	0.61080	0.989	P	0.60012	0.867	T	0.01078	-1.1459	10	0.30078	T	0.28	.	11.8515	0.52413	0.1741:0.8259:0.0:0.0	.	1590	P01031	CO5_HUMAN	T	1590	ENSP00000223642:A1590T	ENSP00000223642:A1590T	A	-	1	0	C5	122755962	0.967000	0.33354	0.968000	0.41197	0.532000	0.34746	1.381000	0.34362	2.884000	0.98904	0.655000	0.94253	GCT		0.383	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1		NM_001735		21	100	0	0	0	0.00278	0	21	100		
CIZ1	25792	broad.mit.edu	37	9	130940682	130940682	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:130940682C>G	ENST00000393608.1	-	9	1788	c.1586G>C	c.(1585-1587)gGa>gCa	p.G529A	CIZ1_ENST00000357558.5_Missense_Mutation_p.G501A|CIZ1_ENST00000541172.1_Missense_Mutation_p.G428A|CIZ1_ENST00000277465.4_Missense_Mutation_p.G501A|CIZ1_ENST00000372954.1_Missense_Mutation_p.G449A|CIZ1_ENST00000372948.3_Missense_Mutation_p.G473A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.G529A|CIZ1_ENST00000325721.8_Missense_Mutation_p.G500A|CIZ1_ENST00000372938.5_Missense_Mutation_p.G529A	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	529					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G529A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTCACATTCTCCCACATCTAG	0.562																																						uc004btt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(1585-1587)GGA>GCA		CDKN1A interacting zinc finger protein 1 isoform							237.0	203.0	214.0					9																	130940682		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130940682C>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1586G>C	9.37:g.130940682C>G	ENSP00000377232:p.Gly529Ala					CIZ1_uc004btr.2_Missense_Mutation_p.G501A|CIZ1_uc004bts.2_Missense_Mutation_p.G500A|CIZ1_uc011maq.1_Missense_Mutation_p.G468A|CIZ1_uc004btu.2_Missense_Mutation_p.G449A|CIZ1_uc011mar.1_Missense_Mutation_p.G428A|CIZ1_uc011mas.1_Missense_Mutation_p.G559A|CIZ1_uc004btw.2_Missense_Mutation_p.G473A|CIZ1_uc004btv.2_Missense_Mutation_p.G529A	p.G529A	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			9	1749	-			529					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.1586G>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	C	9.876	1.200244	0.22121	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.31;1.23;1.46;1.31;1.74;1.46;1.15;1.31;1.9	4.32	3.41	0.39046	.	0.156407	0.30410	N	0.009700	T	0.28400	0.0702	L	0.34521	1.04	0.30680	N	0.752422	B;B;B;B;B;B;B	0.28933	0.073;0.146;0.228;0.119;0.058;0.037;0.146	B;B;B;B;B;B;B	0.30179	0.057;0.036;0.078;0.112;0.022;0.024;0.036	T	0.30909	-0.9962	10	0.46703	T	0.11	-7.1925	12.5699	0.56331	0.0:0.831:0.169:0.0	.	529;468;473;449;529;500;501	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	A	449;529;529;501;500;468;428;501;473;529;451	ENSP00000362045:G449A;ENSP00000377232:G529A;ENSP00000439244:G529A;ENSP00000350169:G501A;ENSP00000320374:G500A;ENSP00000445057:G428A;ENSP00000277465:G501A;ENSP00000362039:G473A;ENSP00000362029:G529A;ENSP00000398011:G451A	ENSP00000277465:G501A	G	-	2	0	CIZ1	129980503	0.341000	0.24801	1.000000	0.80357	0.268000	0.26511	1.059000	0.30517	1.398000	0.46701	0.561000	0.74099	GGA		0.562	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1		NM_012127		13	168	0	0	0	0.00499	0	13	168		
LAMC3	10319	broad.mit.edu	37	9	133927972	133927972	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:133927972G>C	ENST00000361069.4	+	10	1858	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	575	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.L575L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTACAGCTGAGGCTGGAAG	0.642											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004caa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(1723-1725)CTG>CTC		laminin, gamma 3 precursor							40.0	46.0	44.0					9																	133927972		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927972G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1725G>C	9.37:g.133927972G>C			OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.L575L	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1823	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	575			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.1725G>C	CCDS6938.1																																																																																				0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		12	53	0	0	0	0.00499	0	12	53		
SETX	23064	broad.mit.edu	37	9	135204838	135204838	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135204838T>C	ENST00000224140.5	-	10	2329	c.2147A>G	c.(2146-2148)aAa>aGa	p.K716R	SETX_ENST00000393220.1_Missense_Mutation_p.K716R|SETX_ENST00000372169.2_Missense_Mutation_p.K716R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	716					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K716R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAGATCTCTTTTACAGACTT	0.363																																						uc004cbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2146-2148)AAA>AGA		senataxin							94.0	99.0	97.0					9																	135204838		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204838T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2147A>G	9.37:g.135204838T>C	ENSP00000224140:p.Lys716Arg					SETX_uc004cbj.2_Missense_Mutation_p.K335R|SETX_uc010mzt.2_Missense_Mutation_p.K335R	p.K716R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2330	-		Myeloproliferative disorder(178;0.204)	716					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.2147A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.733193	0.30684	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87650	-2.19;-2.28;-1.9	5.79	-0.773	0.10995	.	2.353210	0.01295	N	0.010147	T	0.77432	0.4129	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.56786	-0.7921	10	0.21540	T	0.41	.	1.8233	0.03115	0.1256:0.2917:0.13:0.4527	.	716;716;716	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	R	716	ENSP00000224140:K716R;ENSP00000361242:K716R;ENSP00000376913:K716R	ENSP00000224140:K716R	K	-	2	0	SETX	134194659	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.366000	0.20365	-0.372000	0.07992	-1.270000	0.01421	AAA		0.363	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		66	173	0	0	0	0.00361	0	66	173		
AK8	158067	broad.mit.edu	37	9	135601228	135601228	+	Silent	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135601228G>C	ENST00000298545.3	-	13	1808	c.1287C>G	c.(1285-1287)gtC>gtG	p.V429V	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	429	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.V429V(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTTTCAGCTTGACCTGCTCTT	0.552																																						uc004cbu.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1285-1287)GTC>GTG		putative adenylate kinase-like protein C9orf98							115.0	85.0	95.0					9																	135601228		2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135601228G>C	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1287C>G	9.37:g.135601228G>C						C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.V225V	p.V429V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	13	1843	-			429			Adenylate kinase.		A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.1287C>G	CCDS6954.1																																																																																				0.552	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1		NM_152572		3	10	0	0	0	0.004672	0	3	10		
AK8	158067	broad.mit.edu	37	9	135702366	135702366	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:135702366G>C	ENST00000298545.3	-	8	1153	c.632C>G	c.(631-633)tCa>tGa	p.S211*	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	211	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.S211*(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CTCCAGCTCTGAGATGTCCTC	0.502																																						uc004cbu.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(631-633)TCA>TGA		putative adenylate kinase-like protein C9orf98							241.0	221.0	228.0					9																	135702366		2203	4300	6503	SO:0001587	stop_gained	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702366G>C	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.632C>G	9.37:g.135702366G>C	ENSP00000298545:p.Ser211*					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Nonsense_Mutation_p.S7*	p.S211*	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	8	1188	-			211					A8K821|Q8N9W9	Nonsense_Mutation	SNP	ENST00000298545.3	37	c.632C>G	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	39	7.664344	0.98419	.	.	ENSG00000165695	ENST00000298545	.	.	.	5.34	4.44	0.53790	.	0.215069	0.41396	D	0.000897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.4592	13.1155	0.59297	0.0773:0.0:0.9227:0.0	.	.	.	.	X	211	.	ENSP00000298545:S211X	S	-	2	0	AK8	134692187	1.000000	0.71417	0.904000	0.35570	0.364000	0.29643	5.387000	0.66243	1.257000	0.44085	0.455000	0.32223	TCA		0.502	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1		NM_152572		5	287	0	0	0	0.001168	0	5	287		
FAM166A	401565	broad.mit.edu	37	9	140139656	140139656	+	Missense_Mutation	SNP	C	C	G	rs577967723		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139656C>G	ENST00000344774.4	-	4	591	c.537G>C	c.(535-537)caG>caC	p.Q179H	FAM166A_ENST00000388932.2_Missense_Mutation_p.Q179H	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	179						nucleus (GO:0005634)		p.Q179H(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						ACTCATCCCTCTGGCAGTGGT	0.667																																						uc004cmi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(535-537)CAG>CAC		hypothetical protein LOC401565							28.0	32.0	31.0					9																	140139656		2203	4292	6495	SO:0001583	missense	401565							g.chr9:140139656C>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.537G>C	9.37:g.140139656C>G	ENSP00000344729:p.Gln179His						p.Q179H	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			4	592	-			179					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.537G>C	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321426	0.23994	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.23	4.32	0.51571	.	22.501800	0.00166	N	0.000000	T	0.27313	0.0670	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14476	-1.0471	9	0.15952	T	0.53	-0.09	10.2398	0.43305	0.0:0.9041:0.0:0.0959	.	179	Q6J272	F166A_HUMAN	H	179;179;206	.	ENSP00000344729:Q179H	Q	-	3	2	FAM166A	139259477	0.032000	0.19561	0.998000	0.56505	0.050000	0.14768	1.243000	0.32767	2.431000	0.82371	0.561000	0.74099	CAG		0.667	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1		NM_001001710		4	45	0	0	0	0.001168	0	4	45		
FAM166A	401565	broad.mit.edu	37	9	140139944	140139944	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140139944C>G	ENST00000344774.4	-	3	391	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	FAM166A_ENST00000388932.2_Missense_Mutation_p.E113Q	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	113						nucleus (GO:0005634)		p.E113Q(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGGCGGCTCCTGGGCGTCC	0.627																																						uc004cmi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(337-339)GAG>CAG		hypothetical protein LOC401565							63.0	79.0	74.0					9																	140139944		2197	4299	6496	SO:0001583	missense	401565							g.chr9:140139944C>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.337G>C	9.37:g.140139944C>G	ENSP00000344729:p.Glu113Gln						p.E113Q	NM_001001710	NP_001001710	Q6J272	F166A_HUMAN			3	392	-			113					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.337G>C	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460331	0.12342	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.1	0.741	0.18336	.	0.489617	0.20066	N	0.099961	T	0.17874	0.0429	N	0.22421	0.69	0.09310	N	1	B	0.29432	0.244	B	0.19148	0.024	T	0.10359	-1.0633	9	0.46703	T	0.11	-7.8004	4.0161	0.09644	0.4205:0.3946:0.0:0.1849	.	113	Q6J272	F166A_HUMAN	Q	113;113;140	.	ENSP00000344729:E113Q	E	-	1	0	FAM166A	139259765	0.000000	0.05858	0.004000	0.12327	0.140000	0.21249	-0.073000	0.11468	0.142000	0.18901	0.462000	0.41574	GAG		0.627	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1		NM_001001710		14	91	0	0	0	0.004007	0	14	91		
CACNA1B	774	broad.mit.edu	37	9	140907677	140907677	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr9:140907677T>G	ENST00000371372.1	+	18	2402	c.2257T>G	c.(2257-2259)Tcc>Gcc	p.S753A	CACNA1B_ENST00000277550.3_Missense_Mutation_p.S44A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S754A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S754A|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S753A|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S753A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	753					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.S44A(1)|p.S753A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCGAACATCTCCATCGCCGC	0.602																																						uc004cog.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(3)|large_intestine(2)|ovary(1)	6						c.(2257-2259)TCC>GCC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						56.0	56.0	56.0					9																	140907677		1970	4148	6118	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140907677T>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2257T>G	9.37:g.140907677T>G	ENSP00000360423:p.Ser753Ala					CACNA1B_uc011mfd.1_Missense_Mutation_p.S284A	p.S753A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	18	2402	+	all_cancers(76;0.166)		753			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2257T>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144723	0.57044	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000277550	D;D;D;D;D;T	0.96685	-4.08;-4.09;-4.08;-4.07;-4.07;0.81	4.29	4.29	0.51040	.	0.594158	0.16690	N	0.203571	D	0.97498	0.9181	M	0.71206	2.165	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	D	0.96947	0.9692	10	0.46703	T	0.11	.	13.4513	0.61172	0.0:0.0:0.0:1.0	.	753;753	B1AQK4;B1AQK6	.;.	A	753;753;753;754;754;44	ENSP00000360423:S753A;ENSP00000277551:S753A;ENSP00000360414:S753A;ENSP00000360408:S754A;ENSP00000360406:S754A;ENSP00000277550:S44A	ENSP00000277550:S44A	S	+	1	0	CACNA1B	140027498	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.176000	0.71955	1.573000	0.49748	0.459000	0.35465	TCC		0.602	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		NM_000718		7	26	0	0	0	0.006214	0	7	26		
TLR8	51311	broad.mit.edu	37	X	12939592	12939592	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:12939592G>A	ENST00000218032.6	+	2	2520	c.2433G>A	c.(2431-2433)ggG>ggA	p.G811G	TLR8_ENST00000311912.5_Silent_p.G829G	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	811	LRRCT.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.G829G(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ATCAAAGAGGGAAGAGTATTG	0.418																																						uc004cve.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2431-2433)GGG>GGA		toll-like receptor 8 precursor							128.0	107.0	114.0					X																	12939592		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939592G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2433G>A	X.37:g.12939592G>A						TLR8_uc004cvd.2_Silent_p.G829G	p.G811G	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2501	+			811			Extracellular (Potential).|LRRCT.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2433G>A	CCDS14152.1																																																																																				0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2		NM_016610		30	186	0	0	0	0.002096	0	30	186		
BMX	660	broad.mit.edu	37	X	15534291	15534291	+	Missense_Mutation	SNP	G	G	T	rs149800709		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:15534291G>T	ENST00000357607.2	+	5	570	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	BMX_ENST00000342014.6_Missense_Mutation_p.G128W|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.G128W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	128					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.G128W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CTTCGTGGACGGGAAGTTCCT	0.517																																						uc004cww.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(2)	5						c.(382-384)GGG>TGG		BMX non-receptor tyrosine kinase							169.0	153.0	158.0					X																	15534291		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15534291G>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.382G>T	X.37:g.15534291G>T	ENSP00000350224:p.Gly128Trp					BMX_uc004cwx.3_Missense_Mutation_p.G128W|BMX_uc004cwy.3_Missense_Mutation_p.G128W	p.G128W	NM_203281	NP_975010	P51813	BMX_HUMAN			5	570	+	Hepatocellular(33;0.183)		128			Btk-type.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.382G>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999387	0.74818	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.96522	-4.04;-4.04;-4.04	5.38	5.38	0.77491	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.000000	0.64402	D	0.000005	D	0.97977	0.9334	M	0.82323	2.585	0.41736	D	0.989582	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	13.4995	0.61445	0.0:0.0:1.0:0.0	.	128	P51813	BMX_HUMAN	W	128	ENSP00000350224:G128W;ENSP00000308774:G128W;ENSP00000340082:G128W	ENSP00000340082:G128W	G	+	1	0	BMX	15444212	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.244000	0.72391	2.252000	0.74401	0.600000	0.82982	GGG		0.517	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		12	306	1	0	4.3838e-07	0.001855	4.65083e-07	12	306		
SUPT20HL1	100130302	broad.mit.edu	37	X	24383471	24383471	+	IGR	SNP	C	C	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:24383471C>G								AC004552.1 (16448 upstream) : PDK3 (99866 downstream)																							CAGCCACATCCAGGTGTGCAA	0.542																																						uc011mjx.1		NaN																	0				kidney(1)	1						c.(2593-2595)CCA>CGA		hypothetical protein LOC100130302							101.0	89.0	92.0					X																	24383471		1568	3582	5150	SO:0001628	intergenic_variant	100130302							g.chrX:24383471C>G																													X.37:g.24383471C>G							p.P865R	NM_001136234	NP_001129706					1	2594	+									Missense_Mutation	SNP		37	c.2594C>G																																																																																				0	0.542										14	84	0	0	0	0.003163	0	14	84		
TSPAN7	7102	broad.mit.edu	37	X	38534989	38534989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:38534989A>T	ENST00000378482.2	+	5	649	c.472A>T	c.(472-474)Aac>Tac	p.N158Y	TSPAN7_ENST00000422612.2_Missense_Mutation_p.N184Y|TSPAN7_ENST00000545599.1_Missense_Mutation_p.N132Y|TM4SF2_ENST00000465127.1_Missense_Mutation_p.N188Y|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Missense_Mutation_p.N175Y	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	158					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.N153Y(1)|p.N158Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAACTACACCAACTGGAGCAC	0.483																																						uc004deg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(472-474)AAC>TAC		tetraspanin 7							74.0	60.0	65.0					X																	38534989		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38534989A>T	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.472A>T	X.37:g.38534989A>T	ENSP00000367743:p.Asn158Tyr					TSPAN7_uc011mkj.1_Missense_Mutation_p.N184Y|TSPAN7_uc011mkk.1_Missense_Mutation_p.N175Y|TSPAN7_uc004deh.2_Missense_Mutation_p.N66Y	p.N158Y	NM_004615	NP_004606	P41732	TSN7_HUMAN			5	541	+			158			Extracellular (Potential).		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.472A>T	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699107	0.88830	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.39	5.39	0.77823	Tetraspanin, EC2 domain (1);	0.079706	0.85682	D	0.000000	T	0.81044	0.4741	L	0.32530	0.975	0.58432	D	0.999997	D;D;P	0.55800	0.973;0.973;0.917	P;P;P	0.56343	0.722;0.793;0.796	T	0.79834	-0.1636	9	.	.	.	.	14.4938	0.67670	1.0:0.0:0.0:0.0	.	175;184;158	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	Y	188;158;184;175;132	ENSP00000417050:N188Y;ENSP00000367743:N158Y;ENSP00000388954:N184Y;ENSP00000286824:N175Y;ENSP00000441540:N132Y	.	N	+	1	0	RP5-972B16.2;TSPAN7	38419933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.793000	0.69060	1.999000	0.58509	0.486000	0.48141	AAC		0.483	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1				23	50	0	0	0	0.002299	0	23	50		
CXorf38	159013	broad.mit.edu	37	X	40496396	40496396	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:40496396G>A	ENST00000327877.5	-	4	510	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CXorf38_ENST00000378421.1_Missense_Mutation_p.R43C|CXorf38_ENST00000440784.2_Missense_Mutation_p.R77C|CXorf38_ENST00000378426.1_Missense_Mutation_p.R43C	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	162								p.R162C(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTCATTACGACATTTAATT	0.338																																						uc004dew.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(484-486)CGT>TGT		hypothetical protein LOC159013							39.0	35.0	37.0					X																	40496396		2202	4297	6499	SO:0001583	missense	159013							g.chrX:40496396G>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.484C>T	X.37:g.40496396G>A	ENSP00000330488:p.Arg162Cys					CXorf38_uc011mko.1_Missense_Mutation_p.R77C|CXorf38_uc004dev.1_Missense_Mutation_p.R43C|CXorf38_uc010nhd.2_RNA	p.R162C	NM_144970	NP_659407	Q8TB03	CX038_HUMAN			4	489	-			162					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.484C>T	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508724	0.64410	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.84	4.84	0.62591	.	0.233120	0.31884	N	0.006917	T	0.80276	0.4593	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82812	-0.0272	10	0.87932	D	0	-0.359	15.779	0.78246	0.0:0.0:1.0:0.0	.	77;162	E7EN46;Q8TB03	.;CX038_HUMAN	C	43;162;43;77	ENSP00000367683:R43C;ENSP00000330488:R162C;ENSP00000367677:R43C;ENSP00000400019:R77C	ENSP00000330488:R162C	R	-	1	0	CXorf38	40381340	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.345000	0.59360	2.238000	0.73509	0.422000	0.28245	CGT		0.338	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3		NM_144970		5	91	0	0	0	0.001168	0	5	91		
HDAC6	10013	broad.mit.edu	37	X	48666514	48666514	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:48666514G>T	ENST00000334136.5	+	9	885	c.707G>T	c.(706-708)cGc>cTc	p.R236L	HDAC6_ENST00000376619.2_Missense_Mutation_p.R236L|HDAC6_ENST00000444343.2_Missense_Mutation_p.R250L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Missense_Mutation_p.R181L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	236	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.R236L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTGGCAGCCCGCTATGCTCAA	0.582																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(706-708)CGC>CTC		histone deacetylase 6	Vorinostat(DB02546)						64.0	45.0	51.0					X																	48666514		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48666514G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.707G>T	X.37:g.48666514G>T	ENSP00000334061:p.Arg236Leu					HDAC6_uc004dks.1_Missense_Mutation_p.R236L|HDAC6_uc010nig.1_Missense_Mutation_p.R84L|HDAC6_uc004dkt.1_Missense_Mutation_p.R236L|HDAC6_uc011mmj.1_Missense_Mutation_p.R181L|HDAC6_uc011mmk.1_Missense_Mutation_p.R217L	p.R236L	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			9	802	+			236			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.707G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270080	0.80469	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000426196	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.05	5.05	0.67936	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	T	0.79759	0.4501	L	0.52126	1.63	0.46521	D	0.999081	D;B;D	0.71674	0.998;0.385;0.998	D;B;D	0.71656	0.974;0.348;0.974	T	0.81848	-0.0744	10	0.72032	D	0.01	-17.4352	14.8247	0.70101	0.0:0.0:1.0:0.0	.	226;181;236	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	L	250;236;236;236;181;236	ENSP00000398566:R250L;ENSP00000334061:R236L;ENSP00000365804:R236L;ENSP00000398801:R181L;ENSP00000402189:R236L	ENSP00000334061:R236L	R	+	2	0	HDAC6	48551458	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.972000	0.49256	2.084000	0.62774	0.513000	0.50165	CGC		0.582	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2		NM_006044		5	10	1	0	0.000274275	0.004482	0.000283079	5	10		
PAGE1	8712	broad.mit.edu	37	X	49454135	49454135	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:49454135C>T	ENST00000376150.3	-	5	436	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	102					cellular defense response (GO:0006968)			p.E102K(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTATCCGCTTCAGGCTCTGGC	0.353																																						uc004dom.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(304-306)GAA>AAA		P antigen family, member 1							63.0	60.0	61.0					X																	49454135		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49454135C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.304G>A	X.37:g.49454135C>T	ENSP00000365320:p.Glu102Lys						p.E102K	NM_003785	NP_003776	O75459	GAGB1_HUMAN			5	437	-	Ovarian(276;0.236)		102					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.304G>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	C	6.248	0.413840	0.11812	.	.	ENSG00000068985	ENST00000376150	T	0.15256	2.44	1.03	1.03	0.20045	.	.	.	.	.	T	0.17280	0.0415	M	0.76938	2.355	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.37663	-0.9696	9	0.13853	T	0.58	.	5.029	0.14400	0.0:1.0:0.0:0.0	.	102	O75459	GAGB1_HUMAN	K	102	ENSP00000365320:E102K	ENSP00000365320:E102K	E	-	1	0	PAGE1	49341089	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.163000	0.09997	0.781000	0.33589	0.179000	0.17066	GAA		0.353	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1				29	72	0	0	0	0.003755	0	29	72		
TRO	7216	broad.mit.edu	37	X	54949137	54949137	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:54949137A>G	ENST00000173898.7	+	3	284	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.M58V|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.M58V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	58					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M58V(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTCCCTGGCCATGGACCCACC	0.557																																						uc004dtq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(172-174)ATG>GTG		trophinin isoform 5							40.0	42.0	42.0					X																	54949137		1952	4146	6098	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949137A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.172A>G	X.37:g.54949137A>G	ENSP00000173898:p.Met58Val					TRO_uc011moj.1_Missense_Mutation_p.M1V|TRO_uc004dts.2_Missense_Mutation_p.M58V|TRO_uc004dtr.2_Missense_Mutation_p.M58V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.M58V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	279	+			58					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.172A>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.899962	0.00003	.	.	ENSG00000067445	ENST00000411534;ENST00000452830;ENST00000430420;ENST00000442098;ENST00000173898;ENST00000319167;ENST00000453081;ENST00000375022;ENST00000440759;ENST00000449980;ENST00000416704;ENST00000427099	T;T;T;T;T;T;T;T;T;T;T;T	0.48201	0.87;0.85;0.88;0.88;3.93;3.7;0.82;3.7;0.89;0.89;0.88;0.89	1.94	0.733	0.18289	.	.	.	.	.	T	0.28532	0.0706	N	0.14661	0.345	0.58432	D	0.999999	P;B	0.34587	0.458;0.0	B;B	0.39152	0.292;0.0	T	0.03945	-1.0990	9	0.33940	T	0.23	.	5.5575	0.17125	0.8222:0.0:0.1778:0.0	.	58;58	Q96SX2;Q12816	.;TROP_HUMAN	V	14;14;14;58;58;58;14;58;58;14;58;14	ENSP00000388947:M14V;ENSP00000387676:M14V;ENSP00000411717:M14V;ENSP00000404645:M58V;ENSP00000173898:M58V;ENSP00000318278:M58V;ENSP00000412588:M14V;ENSP00000364162:M58V;ENSP00000406574:M58V;ENSP00000392841:M14V;ENSP00000404767:M58V;ENSP00000405311:M14V	ENSP00000173898:M58V	M	+	1	0	TRO	54965862	0.992000	0.36948	0.954000	0.39281	0.041000	0.13682	0.763000	0.26517	-0.268000	0.09312	-1.927000	0.00513	ATG		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3		NM_016157		17	22	0	0	0	0.00499	0	17	22		
TAF1	6872	broad.mit.edu	37	X	70601652	70601652	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:70601652G>C	ENST00000373790.4	+	9	1468	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	TAF1_ENST00000449580.1_Missense_Mutation_p.E473Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E494Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E494Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	473					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E494Q(1)|p.E473K(1)|p.E494K(1)|p.E473Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATTGACAATGAGGATCTGGT	0.453																																						uc004dzu.3		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1417-1419)GAG>CAG		TBP-associated factor 1 isoform 2							155.0	124.0	135.0					X																	70601652		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70601652G>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1417G>C	X.37:g.70601652G>C	ENSP00000362895:p.Glu473Gln					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E494Q	p.E473Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			9	1468	+	Renal(35;0.156)	all_lung(315;0.000321)	473					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1417G>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	28.5	4.929326	0.92389	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09630	2.96;3.03;3.02;2.97	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.69479	0.922;0.964	T	0.04281	-1.0963	10	0.51188	T	0.08	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	473;494	P21675;P21675-2	TAF1_HUMAN;.	Q	473;473;494;494	ENSP00000362895:E473Q;ENSP00000389000:E473Q;ENSP00000406549:E494Q;ENSP00000276072:E494Q	ENSP00000276072:E494Q	E	+	1	0	TAF1	70518377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.275000	0.75901	0.594000	0.82650	GAG		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2		NM_004606		5	216	0	0	0	0.001168	0	5	216		
PAK3	5063	broad.mit.edu	37	X	110435399	110435399	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:110435399A>G	ENST00000372010.1	+	13	1362	c.920A>G	c.(919-921)cAa>cGa	p.Q307R	PAK3_ENST00000425146.1_Missense_Mutation_p.Q292R|PAK3_ENST00000519681.1_Missense_Mutation_p.Q313R|PAK3_ENST00000262836.4_Missense_Mutation_p.Q307R|PAK3_ENST00000360648.4_Missense_Mutation_p.Q328R|PAK3_ENST00000518291.1_Missense_Mutation_p.Q328R|PAK3_ENST00000446737.1_Missense_Mutation_p.Q292R|PAK3_ENST00000372007.5_Missense_Mutation_p.Q292R|PAK3_ENST00000417227.1_Missense_Mutation_p.Q313R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q328R(1)|p.Q292R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAACAGGACAAGAGGTAAGT	0.333										TSP Lung(19;0.15)																												uc004epa.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(919-921)CAA>CGA		p21-activated kinase 3 isoform d							119.0	108.0	112.0					X																	110435399		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110435399A>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.920A>G	X.37:g.110435399A>G	ENSP00000361080:p.Gln307Arg	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.Q292R|PAK3_uc010npu.1_Missense_Mutation_p.Q292R|PAK3_uc004eoy.1_Missense_Mutation_p.Q47R|PAK3_uc004eoz.2_Missense_Mutation_p.Q292R|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.Q328R|PAK3_uc010npw.1_Missense_Mutation_p.Q313R	p.Q307R	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			9	947	+			307			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.920A>G	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677267	0.47886	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.37466	1.105	0.58432	D	0.999996	B;B;B;B;B	0.21821	0.022;0.049;0.061;0.022;0.061	B;B;B;B;B	0.31946	0.021;0.138;0.09;0.034;0.09	T	0.51076	-0.8751	10	0.22706	T	0.39	.	14.8919	0.70614	1.0:0.0:0.0:0.0	.	313;328;307;292;307	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	R	292;292;307;313;292;328;328;313;307	ENSP00000410853:Q292R;ENSP00000401982:Q292R;ENSP00000361080:Q307R;ENSP00000429113:Q313R;ENSP00000361077:Q292R;ENSP00000428921:Q328R;ENSP00000353864:Q328R;ENSP00000389172:Q313R;ENSP00000262836:Q307R	ENSP00000262836:Q307R	Q	+	2	0	PAK3	110322055	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.942000	0.92970	1.899000	0.54978	0.441000	0.28932	CAA		0.333	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578		7	173	0	0	0	0.001984	0	7	173		
MCTS1	28985	broad.mit.edu	37	X	119742109	119742109	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:119742109G>C	ENST00000371317.5	+	4	549	c.292G>C	c.(292-294)Gat>Cat	p.D98H	MCTS1_ENST00000371315.3_Missense_Mutation_p.D99H|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	98	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)	p.D98H(1)|p.D99H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						CCAGCAGGTTGATAAAGGAGC	0.383																																						uc004esx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(292-294)GAT>CAT		malignant T cell amplified sequence 1 isoform 1							87.0	77.0	80.0					X																	119742109		2203	4300	6503	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119742109G>C	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.292G>C	X.37:g.119742109G>C	ENSP00000360367:p.Asp98His					MCTS1_uc011mub.1_Missense_Mutation_p.D99H	p.D98H	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			4	640	+			98			PUA.		B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.292G>C	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558125	0.86231	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	D;D	0.94687	-3.49;-3.49	5.43	5.43	0.79202	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	H	0.98155	4.16	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.72338	0.943;0.977	D	0.99837	1.1058	9	.	.	.	-10.489	17.1616	0.86805	0.0:0.0:1.0:0.0	.	99;98	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	H	98;99	ENSP00000360367:D98H;ENSP00000360365:D99H	.	D	+	1	0	MCTS1	119626137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.261000	0.74972	0.600000	0.82982	GAT		0.383	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1		NM_014060		12	101	0	0	0	0.001368	0	12	101		
FAM127B	26071	broad.mit.edu	37	X	134185976	134185976	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:134185976C>T	ENST00000370775.2	-	1	229	c.163G>A	c.(163-165)Gag>Aag	p.E55K	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	55								p.E55K(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					AACGTGTTCTCGTCCACGAAC	0.597																																						uc004eyf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(163-165)GAG>AAG		family with sequence similarity 127, member B							79.0	84.0	82.0					X																	134185976		2152	4231	6383	SO:0001583	missense	26071							g.chrX:134185976C>T	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.163G>A	X.37:g.134185976C>T	ENSP00000375267:p.Glu55Lys					FAM127B_uc004eyg.3_Missense_Mutation_p.E55K	p.E55K	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN			1	246	-	Acute lymphoblastic leukemia(192;0.000127)		55					A2A2V9|Q8TBU2	Missense_Mutation	SNP	ENST00000370775.2	37	c.163G>A	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.143941	0.37825	.	.	ENSG00000203950	ENST00000370775	T	0.31247	1.5	2.38	2.38	0.29361	.	0.827618	0.09819	U	0.751809	T	0.27559	0.0677	L	0.59436	1.845	0.23724	N	0.997016	D;P	0.56746	0.977;0.942	B;B	0.40134	0.32;0.198	T	0.17561	-1.0365	10	0.44086	T	0.13	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	53;55	Q6IPB9;Q9BWD3	.;F127B_HUMAN	K	55	ENSP00000375267:E55K	ENSP00000375267:E55K	E	-	1	0	FAM127B	134013642	1.000000	0.71417	0.959000	0.39883	0.236000	0.25371	2.055000	0.41345	1.470000	0.48102	0.292000	0.19580	GAG		0.597	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2		NM_001078172		6	90	0	0	0	0.001168	0	6	90		
GPR112	139378	broad.mit.edu	37	X	135429691	135429691	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:135429691G>C	ENST00000394143.1	+	6	4117	c.3826G>C	c.(3826-3828)Gaa>Caa	p.E1276Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E1071Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E1276Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E1213Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E1071Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1276					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1276Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGACAGAAATGTCCCC	0.438																																						uc004ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3826-3828)GAA>CAA		G-protein coupled receptor 112							71.0	63.0	66.0					X																	135429691		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429691G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3826G>C	X.37:g.135429691G>C	ENSP00000377699:p.Glu1276Gln					GPR112_uc010nsb.1_Missense_Mutation_p.E1071Q|GPR112_uc010nsc.1_Missense_Mutation_p.E1043Q	p.E1276Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4117	+	Acute lymphoblastic leukemia(192;0.000127)		1276			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3826G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	8.035	0.762621	0.15914	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41758	1.03;1.03;0.99;1.1;0.99	3.05	0.939	0.19506	.	.	.	.	.	T	0.45955	0.1368	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.996;0.999;0.998	D;D;D	0.80764	0.986;0.994;0.986	T	0.24225	-1.0166	9	0.87932	D	0	.	3.3723	0.07225	0.1681:0.2697:0.5622:0.0	.	1213;1071;1276	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Q	1276;1276;1071;1213;1071	ENSP00000377699:E1276Q;ENSP00000359686:E1276Q;ENSP00000416526:E1071Q;ENSP00000287534:E1213Q;ENSP00000377697:E1071Q	ENSP00000287534:E1213Q	E	+	1	0	GPR112	135257357	0.972000	0.33761	0.039000	0.18376	0.047000	0.14425	0.345000	0.19979	0.454000	0.26884	0.525000	0.51046	GAA		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1				59	117	0	0	0	0.00361	0	59	117		
GPR101	83550	broad.mit.edu	37	X	136112838	136112838	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:136112838C>A	ENST00000298110.1	-	1	995	c.996G>T	c.(994-996)atG>atT	p.M332I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.M332I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGCCTTCATGCTGTTCT	0.557																																						uc011mwh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(1)|skin(1)	5						c.(994-996)ATG>ATT		G protein-coupled receptor 101							392.0	284.0	321.0					X																	136112838		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112838C>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.996G>T	X.37:g.136112838C>A	ENSP00000298110:p.Met332Ile						p.M332I	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	996	-	Acute lymphoblastic leukemia(192;0.000127)		332			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.996G>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.612382	0.00835	.	.	ENSG00000165370	ENST00000298110	T	0.62941	-0.01	4.42	0.464	0.16706	GPCR, rhodopsin-like superfamily (1);	0.944478	0.08669	N	0.911237	T	0.36936	0.0985	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18935	-1.0321	10	0.37606	T	0.19	-0.6439	4.2235	0.10570	0.173:0.5314:0.0:0.2956	.	332	Q96P66	GP101_HUMAN	I	332	ENSP00000298110:M332I	ENSP00000298110:M332I	M	-	3	0	GPR101	135940504	0.000000	0.05858	0.002000	0.10522	0.102000	0.19082	-0.202000	0.09451	-0.043000	0.13513	0.600000	0.82982	ATG		0.557	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1				46	304	1	0	4.44401e-20	0.002522	4.94042e-20	46	304		
F9	2158	broad.mit.edu	37	X	138612920	138612920	+	5'UTR	SNP	G	G	T			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:138612920G>T	ENST00000218099.2	+	0	4				F9_ENST00000394090.2_5'Flank|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGCTAGCAAAGGTTATGCAGC	0.433																																						uc004fas.1		NaN																	0				lung(2)|ovary(1)	3						c.(-5--1)AAGGT>AATGT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						218.0	173.0	189.0					X																	138612920		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138612920G>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.-4G>T	X.37:g.138612920G>T						F9_uc004fat.1_Translation_Start_Site		NM_000133	NP_000124	P00740	FA9_HUMAN			1	26	+	Acute lymphoblastic leukemia(192;0.000127)							A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Translation_Start_Site	SNP	ENST00000218099.2	37	c.-3G>T	CCDS14666.1																																																																																				0.433	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1				6	128	1	0	2.0095e-06	0.001984	2.12114e-06	6	128		
MAGEA6	4105	broad.mit.edu	37	X	151870004	151870004	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:151870004G>C	ENST00000329342.5	+	3	919	c.694G>C	c.(694-696)Gag>Cag	p.E232Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	232	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E232Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGTTTGAGGGGAGGGA	0.537																																						uc004ffq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(694-696)GAG>CAG		melanoma antigen family A, 6							160.0	155.0	156.0					X																	151870004		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870004G>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.694G>C	X.37:g.151870004G>C	ENSP00000329199:p.Glu232Gln					MAGEA6_uc004ffr.1_Missense_Mutation_p.E232Q|MAGEA2_uc010nto.2_Intron	p.E232Q	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	888	+	Acute lymphoblastic leukemia(192;6.56e-05)		232			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.694G>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	4.266	0.048376	0.08243	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.05258	3.47;3.47	0.605	0.605	0.17553	.	.	.	.	.	T	0.06781	0.0173	L	0.38175	1.15	0.09310	N	1	B	0.19445	0.036	B	0.34346	0.18	T	0.45145	-0.9281	8	0.29301	T	0.29	.	.	.	.	.	232	P43360	MAGA6_HUMAN	Q	232	ENSP00000329199:E232Q;ENSP00000401806:E232Q	ENSP00000329199:E232Q	E	+	1	0	MAGEA6	151620660	0.000000	0.05858	0.012000	0.15200	0.165000	0.22458	-0.258000	0.08733	0.573000	0.29400	0.181000	0.17075	GAG		0.537	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2		NM_005363		76	203	0	0	0	0.00361	0	76	203		
L1CAM	3897	broad.mit.edu	37	X	153128148	153128148	+	Silent	SNP	G	G	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:153128148G>A	ENST00000370060.1	-	29	3933	c.3744C>T	c.(3742-3744)tcC>tcT	p.S1248S	L1CAM_ENST00000361981.3_Silent_p.S1239S|L1CAM_ENST00000370057.3_Silent_p.S1248S|L1CAM_ENST00000370055.1_Silent_p.S1239S|L1CAM_ENST00000361699.4_Silent_p.S1244S|L1CAM_ENST00000543994.1_Silent_p.S1250S|L1CAM_ENST00000538883.1_Silent_p.S1246S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1248					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.S1248S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					GGTTGATGGGGGAAGTGGCCC	0.607																																						uc004fjb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|central_nervous_system(1)	9						c.(3742-3744)TCC>TCT		L1 cell adhesion molecule isoform 1 precursor							73.0	61.0	65.0					X																	153128148		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128148G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3744C>T	X.37:g.153128148G>A						L1CAM_uc004fjc.2_Silent_p.S1244S|L1CAM_uc010nuo.2_Silent_p.S1239S	p.S1248S	NM_000425	NP_000416	P32004	L1CAM_HUMAN			28	3852	-	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)		1248			Cytoplasmic (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3744C>T	CCDS14733.1																																																																																				0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003		4	59	0	0	0	0.009096	0	4	59		
CMC4	100272147	broad.mit.edu	37	X	154292253	154292253	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:154292253T>G	ENST00000369484.3	-	2	724	c.46A>C	c.(46-48)Aaa>Caa	p.K16Q	CMC4_ENST00000369479.1_Missense_Mutation_p.K16Q|MTCP1_ENST00000482244.1_5'Flank	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	16					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.K16Q(1)									TGTAAACATTTCTGTATCTCA	0.299																																						uc004fmy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(46-48)AAA>CAA		mature T-cell proliferation 1 neighbor							84.0	95.0	91.0					X																	154292253		2203	4299	6502	SO:0001583	missense	100272147				cell proliferation	mitochondrion		g.chrX:154292253T>G		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.46A>C	X.37:g.154292253T>G	ENSP00000358496:p.Lys16Gln						p.K16Q	NM_001018024	NP_001018024	P56277	MTCNB_HUMAN			2	635	-			16					Q5HYP9	Missense_Mutation	SNP	ENST00000369484.3	37	c.46A>C	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336830	0.60963	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.31	4.1	0.47936	.	0.309625	0.19998	U	0.101386	T	0.57359	0.2048	.	.	.	0.80722	D	1	P	0.44946	0.846	P	0.47528	0.549	T	0.53457	-0.8436	8	0.42905	T	0.14	-17.4847	9.313	0.37917	0.0:0.0:0.1786:0.8214	.	16	P56277	MTCNB_HUMAN	Q	16	.	ENSP00000358491:K16Q	K	-	1	0	MTCP1NB	153945447	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.394000	0.59671	0.722000	0.32252	0.481000	0.45027	AAA		0.299	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2		NM_001018024.2		21	285	0	0	0	0.010504	0	21	285		
STIL	6491	broad.mit.edu	37	1	47716998	47717011	+	Frame_Shift_Del	DEL	CTTGGTTTAAGGTT	CTTGGTTTAAGGTT	-	rs200517799		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:47716998_47717011delCTTGGTTTAAGGTT	ENST00000360380.3	-	18	4024_4037	c.3661_3674delAACCTTAAACCAAG	c.(3661-3675)aaccttaaaccaagtfs	p.NLKPS1221fs	STIL_ENST00000396221.2_Frame_Shift_Del_p.NLKPS1204fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NLKPS1222fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1221					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CACTGCAGGACTTGGTTTAAGGTTCTTTACTAAG	0.402																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(3661-3675)AACCTTAAACCAAGTfs		SCL/TAL1 interrupting locus isoform 2																																				SO:0001589	frameshift_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47716998_47717011delCTTGGTTTAAGGTT	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3661_3674delAACCTTAAACCAAG	1.37:g.47716998_47717011delCTTGGTTTAAGGTT	ENSP00000353544:p.Asn1221fs					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.N1175fs|STIL_uc010omo.1_Frame_Shift_Del_p.N1204fs|STIL_uc001crd.1_Frame_Shift_Del_p.N1222fs|STIL_uc001cre.1_Frame_Shift_Del_p.N1221fs	p.N1221fs	NM_003035	NP_003026	Q15468	STIL_HUMAN			17	3816_3829	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	1221_1225					Q5T0C5|Q68CN9	Frame_Shift_Del	DEL	ENST00000360380.3	37	c.3661_3674delAACCTTAAACCAAG	CCDS548.1																																																																																				0.402	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		19	335	NaN	NaN	NaN	NaN	NaN	19	335	---	---
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						uc001ies.1		NaN																	1	Insertion - Frameshift(1)		prostate(1)		0						c.(955-960)GTGATCfs		olfactory receptor, family 2, subfamily T,																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.V319fs	NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	957_958	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	319_320			Cytoplasmic (Potential).		Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1		NM_001001827		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
DHTKD1	55526	broad.mit.edu	37	10	12160750	12160750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr10:12160750delT	ENST00000263035.4	+	15	2467	c.2405delT	c.(2404-2406)gttfs	p.V802fs	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	802					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCAACAGGGTTAAGACCCTC	0.468																																						uc001ild.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2404-2406)GTTfs		dehydrogenase E1 and transketolase domain							149.0	165.0	160.0					10																	12160750		2203	4300	6503	SO:0001589	frameshift_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160750delT	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2405delT	10.37:g.12160750delT	ENSP00000263035:p.Val802fs						p.V802fs	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2504	+		Renal(717;0.228)	802					Q68CU5|Q9BUM8|Q9HCE2	Frame_Shift_Del	DEL	ENST00000263035.4	37	c.2405delT	CCDS7087.1																																																																																				0.468	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		NM_018706		22	543	NaN	NaN	NaN	NaN	NaN	22	543	---	---
TIGD3	220359	broad.mit.edu	37	11	65124558	65124558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr11:65124558delC	ENST00000309880.5	+	2	1486	c.1279delC	c.(1279-1281)cccfs	p.P427fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	427						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGCCTTTGAGCCCCTGCCCAC	0.562																																						uc001odo.3		NaN																	0					0						c.(1279-1281)CCCfs		tigger transposable element derived 3							95.0	90.0	92.0					11																	65124558		2201	4297	6498	SO:0001589	frameshift_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124558delC		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1279delC	11.37:g.65124558delC	ENSP00000308354:p.Pro427fs						p.P427fs	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1442	+			427						Frame_Shift_Del	DEL	ENST00000309880.5	37	c.1279delC	CCDS8101.1																																																																																				0.562	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1		NM_145719		48	34	NaN	NaN	NaN	NaN	NaN	48	34	---	---
KIAA1551	55196	broad.mit.edu	37	12	32136793	32136794	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr12:32136793_32136794insC	ENST00000312561.4	+	4	3318_3319	c.2904_2905insC	c.(2905-2907)atafs	p.I969fs	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	969																	TTTCACATAAAATATGTGATCA	0.351																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(2902-2907)AAAATAfs		hypothetical protein LOC55196																																				SO:0001589	frameshift_variant	55196							g.chr12:32136793_32136794insC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	Exception_encountered	12.37:g.32136793_32136794insC	ENSP00000310338:p.Ile969fs						p.K968fs	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3318_3319	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		968_969					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Frame_Shift_Ins	INS	ENST00000312561.4	37	c.2904_2905insC	CCDS8725.2																																																																																				0.351	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		10	115	NaN	NaN	NaN	NaN	NaN	10	115	---	---
GHDC	84514	broad.mit.edu	37	17	40342704	40342704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr17:40342704delG	ENST00000301671.8	-	7	1667	c.1226delC	c.(1225-1227)gcafs	p.A409fs	GHDC_ENST00000436923.2_Frame_Shift_Del_p.A409fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.A409fs|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000428494.2_Frame_Shift_Del_p.A370fs|GHDC_ENST00000587427.1_Frame_Shift_Del_p.A409fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.A409fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	409						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTGCCCCACTGCCCGGCCCAG	0.637																																						uc002hzd.2		NaN																	0					0						c.(1225-1227)GCAfs		LGP1 homolog isoform 1							38.0	39.0	38.0					17																	40342704		2203	4300	6503	SO:0001589	frameshift_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40342704delG	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1226delC	17.37:g.40342704delG	ENSP00000301671:p.Ala409fs					GHDC_uc002hzg.1_Frame_Shift_Del_p.A409fs|GHDC_uc010wgg.1_Frame_Shift_Del_p.A370fs|GHDC_uc002hze.3_Frame_Shift_Del_p.A409fs|GHDC_uc002hzf.3_Frame_Shift_Del_p.A409fs	p.A409fs	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	7	1710	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	409					B4DQS4|E9PDB5|Q9BXM6	Frame_Shift_Del	DEL	ENST00000301671.8	37	c.1226delC	CCDS11422.1																																																																																				0.637	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1		NM_032484		20	22	NaN	NaN	NaN	NaN	NaN	20	22	---	---
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						uc003krl.2		NaN																	0					0						c.(121-126)AAGAGAfs		adaptor-related protein complex 3, sigma 1																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs					AP3S1_uc003krk.2_Frame_Shift_Del_p.K19fs|AP3S1_uc003krm.2_Frame_Shift_Del_p.K41fs	p.K41fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	237_240	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41_42					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2				9	77	NaN	NaN	NaN	NaN	NaN	9	77	---	---
KDM6A	7403	broad.mit.edu	37	X	44941860	44941861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CF-A1HS-01A-11D-A13W-08	TCGA-CF-A1HS-10A-01D-A13W-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	b36e672b-c5d8-4481-bbb3-7be805215212	d99033c8-519c-4dca-b4c4-0d77b418a7ff	g.chrX:44941860_44941861insA	ENST00000377967.4	+	21	3225_3226	c.3184_3185insA	c.(3184-3186)gatfs	p.D1062fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.D983fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.D1017fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.D1069fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1062	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGACCACTCAGATAGTGAATCT	0.317			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3184-3186)GATfs		ubiquitously transcribed tetratricopeptide																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44941860_44941861insA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3185dupA	X.37:g.44941861_44941861dupA	ENSP00000367203:p.Asp1062fs					KDM6A_uc011mkz.1_Frame_Shift_Ins_p.D1114fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.D1017fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.D1069fs|KDM6A_uc011mlc.1_Frame_Shift_Ins_p.D766fs|KDM6A_uc011mld.1_Frame_Shift_Ins_p.D701fs	p.D1062fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			21	3559_3560	+			1062					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.3184_3185insA	CCDS14265.1																																																																																				0.317	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		44	95	NaN	NaN	NaN	NaN	NaN	44	95	---	---
