#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
PRKCZ	5590	broad.mit.edu	37	1	2105377	2105377	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:2105377G>C	ENST00000400921.2	+	11	1461	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E260Q	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CCTCATGTTTGAGATGATGGC	0.627											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aiq.2		NaN																	0				central_nervous_system(4)|large_intestine(2)	6						c.(1327-1329)GAG>CAG		protein kinase C, zeta isoform 1							153.0	130.0	138.0					1																	2105377		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2105377G>C	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.778G>C	1.37:g.2105377G>C	ENSP00000383712:p.Glu260Gln		OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	PRKCZ_uc001air.2_Missense_Mutation_p.E260Q|PRKCZ_uc010nyw.1_Missense_Mutation_p.E339Q|PRKCZ_uc001ais.2_Missense_Mutation_p.E260Q|PRKCZ_uc009vla.2_Missense_Mutation_p.E267Q|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.E291Q	p.E443Q	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	14	1488	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	443			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.1327G>C	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927207	0.73327	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054184	0.64402	D	0.000001	T	0.57021	0.2025	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.944;1.0;1.0	T	0.60100	-0.7329	10	0.87932	D	0	.	16.0356	0.80625	0.0:0.0:1.0:0.0	.	339;267;339;443	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	Q	443;260;339;260	ENSP00000367830:E443Q;ENSP00000383712:E260Q;ENSP00000426412:E339Q;ENSP00000383711:E260Q	ENSP00000367830:E443Q	E	+	1	0	PRKCZ	2095237	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.044000	0.93805	2.455000	0.83008	0.585000	0.79938	GAG		0.627	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3		NM_002744		51	84	0	0	0	0.01441	0	51	84		
ACTRT2	140625	broad.mit.edu	37	1	2938571	2938571	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:2938571G>A	ENST00000378404.2	+	1	526	c.321G>A	c.(319-321)ctG>ctA	p.L107L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACCAGCCCCTGCTTGCAACGG	0.597																																						uc001ajz.2		NaN																	0					0						c.(319-321)CTG>CTA		actin-related protein M2							76.0	76.0	76.0					1																	2938571		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938571G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.321G>A	1.37:g.2938571G>A							p.L107L	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	526	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	107					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.321G>A	CCDS45.1																																																																																				0.597	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1		NM_080431		31	49	0	0	0	0.010818	0	31	49		
THAP3	90326	broad.mit.edu	37	1	6688662	6688662	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:6688662C>T	ENST00000054650.4	+	3	336	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	THAP3_ENST00000307896.6_Missense_Mutation_p.R60W|THAP3_ENST00000377627.3_Missense_Mutation_p.R60W	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	60							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CGAGCACTTCCGGCCAGAGTG	0.607																																						uc001aoc.2		NaN																	0					0						c.(178-180)CGG>TGG		RecName: Full=THAP domain-containing protein 3;							67.0	56.0	60.0					1																	6688662		2203	4300	6503	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6688662C>T	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.178C>T	1.37:g.6688662C>T	ENSP00000054650:p.Arg60Trp					THAP3_uc001aod.2_Missense_Mutation_p.R60W|THAP3_uc001aoe.1_Missense_Mutation_p.R60W	p.R60W			Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	337	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	60			THAP-type.		Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.178C>T	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378570	0.42207	.	.	ENSG00000041988	ENST00000054650;ENST00000307896;ENST00000377627	D;D;D	0.96396	-4.0;-4.0;-4.0	5.01	-2.6	0.06190	Zinc finger, C2CH-type (4);	0.856007	0.09684	N	0.769331	D	0.97034	0.9031	M	0.62088	1.915	0.36190	D	0.850047	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65987	0.932;0.9;0.94	D	0.95421	0.8507	10	0.66056	D	0.02	-9.5111	14.3812	0.66911	0.3277:0.6723:0.0:0.0	.	60;60;60	Q8WTV1-4;Q8WTV1-3;Q8WTV1	.;.;THAP3_HUMAN	W	60	ENSP00000054650:R60W;ENSP00000311537:R60W;ENSP00000366854:R60W	ENSP00000054650:R60W	R	+	1	2	THAP3	6611249	0.014000	0.17966	0.205000	0.23548	0.329000	0.28539	-0.778000	0.04664	-0.236000	0.09753	-0.749000	0.03505	CGG		0.607	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1		NM_138350		19	24	0	0	0	0.00333	0	19	24		
CAMTA1	23261	broad.mit.edu	37	1	7724825	7724825	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:7724825G>A	ENST00000303635.7	+	9	2425	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V740M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	740					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCGGGCAACGTGGTGCAGGG	0.647			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2218-2220)GTG>ATG		calmodulin-binding transcription activator 1							63.0	74.0	70.0					1																	7724825		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724825G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2218G>A	1.37:g.7724825G>A	ENSP00000306522:p.Val740Met						p.V740M	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2425	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	740					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2218G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	7.279	0.608695	0.14066	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.19938	2.11;2.12	5.43	4.41	0.53225	.	0.777040	0.12123	N	0.497475	T	0.07279	0.0184	N	0.02142	-0.665	0.36651	D	0.877405	B	0.20052	0.041	B	0.11329	0.006	T	0.33085	-0.9882	10	0.18710	T	0.47	-16.798	6.1884	0.20510	0.3079:0.0:0.6921:0.0	.	740	Q9Y6Y1	CMTA1_HUMAN	M	740	ENSP00000306522:V740M;ENSP00000402561:V740M	ENSP00000306522:V740M	V	+	1	0	CAMTA1	7647412	1.000000	0.71417	0.955000	0.39395	0.955000	0.61496	2.777000	0.47717	2.560000	0.86352	0.549000	0.68633	GTG		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		36	56	0	0	0	0.013114	0	36	56		
TARDBP	23435	broad.mit.edu	37	1	11078800	11078800	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:11078800A>C	ENST00000240185.3	+	4	527	c.413A>C	c.(412-414)gAt>gCt	p.D138A	TARDBP_ENST00000315091.3_Missense_Mutation_p.D138A|TARDBP_ENST00000439080.2_Missense_Mutation_p.D22A	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	138	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTCAAGAAAGATCTTAAGACT	0.368																																						uc001art.2		NaN																	0				ovary(2)	2						c.(412-414)GAT>GCT		TAR DNA binding protein							158.0	153.0	155.0					1																	11078800		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11078800A>C	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.413A>C	1.37:g.11078800A>C	ENSP00000240185:p.Asp138Ala					TARDBP_uc010oap.1_Missense_Mutation_p.D22A	p.D138A	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	4	547	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	138	Missing: Completely abolishes RNA binding.		RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.413A>C	CCDS122.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928740	0.92389	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.91740	-2.9;-2.9;-2.9	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.041945	0.85682	D	0.000000	D	0.96790	0.8952	M	0.91561	3.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71656	0.971;0.974	D	0.97606	1.0126	10	0.87932	D	0	-41.9854	16.1699	0.81801	1.0:0.0:0.0:0.0	.	22;138	B4DJ45;Q13148	.;TADBP_HUMAN	A	138;22;138	ENSP00000240185:D138A;ENSP00000404666:D22A;ENSP00000313129:D138A	ENSP00000240185:D138A	D	+	2	0	TARDBP	11001387	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.091000	0.94151	2.217000	0.71921	0.533000	0.62120	GAT		0.368	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1		NM_007375		6	137	0	0	0	0.00308	0	6	137		
TNFRSF8	943	broad.mit.edu	37	1	12183421	12183421	+	Missense_Mutation	SNP	G	G	C	rs370973053		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:12183421G>C	ENST00000263932.2	+	9	1249	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	TNFRSF8_ENST00000413146.2_5'Flank|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E232Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	343					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGAGAATGGCGAGGCGCCTGC	0.652																																						uc001atq.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(1027-1029)GAG>CAG		tumor necrosis factor receptor superfamily,							23.0	24.0	24.0					1																	12183421		2197	4298	6495	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12183421G>C	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1027G>C	1.37:g.12183421G>C	ENSP00000263932:p.Glu343Gln					TNFRSF8_uc010obc.1_Missense_Mutation_p.E232Q|TNFRSF8_uc001atr.2_5'Flank|TNFRSF8_uc001ats.2_5'Flank	p.E343Q	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	9	1249	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	343			Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1027G>C	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	2.410	-0.335580	0.05278	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.25749	1.78;1.78	3.15	-2.97	0.05530	.	26.028300	0.00166	N	0.000000	T	0.10294	0.0252	N	0.11560	0.145	0.09310	N	1	P;B	0.36010	0.532;0.131	B;B	0.26614	0.071;0.016	T	0.09058	-1.0692	10	0.17832	T	0.49	-0.9524	4.4744	0.11727	0.5642:0.18:0.2558:0.0	.	232;343	D3YTD8;P28908	.;TNR8_HUMAN	Q	343;232	ENSP00000263932:E343Q;ENSP00000390650:E232Q	ENSP00000263932:E343Q	E	+	1	0	TNFRSF8	12106008	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.275000	0.02817	-0.598000	0.05806	-0.254000	0.11334	GAG		0.652	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1				7	14	0	0	0	0.004482	0	7	14		
KDM1A	23028	broad.mit.edu	37	1	23376901	23376901	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:23376901A>G	ENST00000356634.3	+	3	688	c.539A>G	c.(538-540)cAg>cGg	p.Q180R	KDM1A_ENST00000400181.4_Missense_Mutation_p.Q200R|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.Q200R	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	180	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCTTTCCAGAGCCGACTT	0.448																																						uc001bgi.2		NaN																	0				ovary(1)|lung(1)	2						c.(538-540)CAG>CGG		lysine-specific histone demethylase 1 isoform b							129.0	119.0	122.0					1																	23376901		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376901A>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.539A>G	1.37:g.23376901A>G	ENSP00000349049:p.Gln180Arg					KDM1A_uc001bgj.2_Missense_Mutation_p.Q200R	p.Q180R	NM_015013	NP_055828	O60341	KDM1A_HUMAN			3	688	+			180			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.539A>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835727	0.91117	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.33654	1.43;1.4;1.4	5.82	5.82	0.92795	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.32530	0.975	0.80722	D	1	P;B	0.35551	0.509;0.238	B;B	0.40228	0.217;0.323	T	0.08166	-1.0735	10	0.33940	T	0.23	-17.9657	15.3729	0.74581	1.0:0.0:0.0:0.0	.	200;180	O60341-2;O60341	.;KDM1A_HUMAN	R	180;200;200	ENSP00000349049:Q180R;ENSP00000383042:Q200R;ENSP00000439072:Q200R	ENSP00000349049:Q180R	Q	+	2	0	KDM1A	23249488	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.290000	0.96065	2.216000	0.71823	0.533000	0.62120	CAG		0.448	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		NM_015013		19	59	0	0	0	0.010504	0	19	59		
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:24768670C>T	ENST00000374399.4	+	4	656	c.288C>T	c.(286-288)ttC>ttT	p.F96F	NIPAL3_ENST00000358028.4_Silent_p.F96F|NIPAL3_ENST00000003912.3_Silent_p.F14F|NIPAL3_ENST00000428131.1_Silent_p.F96F|NIPAL3_ENST00000339255.2_Silent_p.F96F	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACGCCTTCGCGCCGCTGT	0.632																																						uc001bjh.2		NaN																	0					0						c.(286-288)TTC>TTT		NIPA-like domain containing 3							124.0	111.0	115.0					1																	24768670		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24768670C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.288C>T	1.37:g.24768670C>T						NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F	p.F96F	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			4	695	+			96			Helical; (Potential).		A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.288C>T	CCDS30631.1																																																																																				0.632	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1		NM_020448		50	93	0	0	0	0.01441	0	50	93		
AZIN2	113451	broad.mit.edu	37	1	33562402	33562402	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:33562402C>T	ENST00000294517.6	+	9	1435	c.848C>T	c.(847-849)tCg>tTg	p.S283L	ADC_ENST00000358680.3_Missense_Mutation_p.S125L|ADC_ENST00000373440.1_Missense_Mutation_p.S125L|ADC_ENST00000398167.1_Missense_Mutation_p.S283L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.S283L|ADC_ENST00000373443.3_Missense_Mutation_p.S283L	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		283					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TACGTGACCTCGGCCTTCACT	0.587																																						uc001bwr.2		NaN																	0				ovary(2)	2						c.(847-849)TCG>TTG		ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						160.0	132.0	141.0					1																	33562402		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33562402C>T																												ENST00000294517.6:c.848C>T	1.37:g.33562402C>T	ENSP00000294517:p.Ser283Leu					ADC_uc001bws.2_Missense_Mutation_p.S283L|ADC_uc009vue.2_Missense_Mutation_p.S283L|ADC_uc001bwt.1_Missense_Mutation_p.S188L|ADC_uc001bwu.2_Missense_Mutation_p.S188L|ADC_uc001bwv.2_Missense_Mutation_p.S188L|ADC_uc001bww.2_Missense_Mutation_p.S188L|ADC_uc001bwx.1_Missense_Mutation_p.S260L|ADC_uc001bwz.1_Missense_Mutation_p.S283L|ADC_uc009vuf.1_Missense_Mutation_p.S125L|ADC_uc001bwy.1_Missense_Mutation_p.S132L|ADC_uc009vug.2_Missense_Mutation_p.S283L	p.S283L	NM_052998	NP_443724	Q96A70	ADC_HUMAN			9	1435	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	283					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.848C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636636	0.96693	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.52754	0.79;0.65;0.79;0.81;0.65;0.81	5.66	5.66	0.87406	Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000002	T	0.80281	0.4594	H	0.96430	3.82	0.48762	D	0.999708	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;1.0	D	0.85795	0.1370	10	0.87932	D	0	-8.2095	19.7268	0.96166	0.0:1.0:0.0:0.0	.	283;125;283;188;283	Q96A70-2;Q96A70-5;Q96A70-3;D3DPR0;Q96A70	.;.;.;.;ADC_HUMAN	L	283;295;125;283;283;125;283	ENSP00000294517:S283L;ENSP00000351508:S125L;ENSP00000362542:S283L;ENSP00000381233:S283L;ENSP00000362539:S125L;ENSP00000362540:S283L	ENSP00000294517:S283L	S	+	2	0	ADC	33334989	1.000000	0.71417	0.965000	0.40720	0.835000	0.47333	7.737000	0.84957	2.843000	0.97960	0.655000	0.94253	TCG		0.587	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1				6	143	0	0	0	0.001984	0	6	143		
CSMD2	114784	broad.mit.edu	37	1	33987121	33987121	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:33987121G>A	ENST00000373381.4	-	68	10715	c.10539C>T	c.(10537-10539)ttC>ttT	p.F3513F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3369						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGGTAGATGAAGGTGGCTC	0.577																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(10105-10107)TTC>TTT		CUB and Sushi multiple domains 2							96.0	88.0	91.0					1																	33987121		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33987121G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10539C>T	1.37:g.33987121G>A						CSMD2_uc001bxm.1_Silent_p.F3513F	p.F3369F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			67	10136	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3369			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10107C>T																																																																																					0.577	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		27	48	0	0	0	0.005524	0	27	48		
ZMYM6	9204	broad.mit.edu	37	1	35452810	35452810	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:35452810C>G	ENST00000357182.4	-	16	4100	c.3873G>C	c.(3871-3873)ttG>ttC	p.L1291F	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6NB_ENST00000373337.3_5'Flank	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1291					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGACTCAGTCAAAGCTGAAA	0.368																																						uc001byh.2		NaN																	0				ovary(3)	3						c.(3871-3873)TTG>TTC		zinc finger protein 258							70.0	66.0	67.0					1																	35452810		1818	4082	5900	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35452810C>G	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3873G>C	1.37:g.35452810C>G	ENSP00000349708:p.Leu1291Phe					uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.L1194F	p.L1291F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			16	4101	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1291					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.3873G>C	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677819	0.47886	.	.	ENSG00000163867	ENST00000357182	T	0.20881	2.04	5.09	4.18	0.49190	Ribonuclease H-like (1);	0.951768	0.08760	N	0.897833	T	0.43456	0.1248	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.17471	-1.0368	10	0.54805	T	0.06	-7.0114	8.8297	0.35076	0.0:0.9016:0.0:0.0984	.	1291	O95789	ZMYM6_HUMAN	F	1291	ENSP00000349708:L1291F	ENSP00000349708:L1291F	L	-	3	2	ZMYM6	35225397	0.984000	0.35163	1.000000	0.80357	0.991000	0.79684	1.469000	0.35343	2.820000	0.97059	0.650000	0.86243	TTG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1		NM_007167		14	32	0	0	0	0.006122	0	14	32		
SNIP1	79753	broad.mit.edu	37	1	38003556	38003556	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:38003556G>A	ENST00000296215.6	-	4	1056	c.984C>T	c.(982-984)atC>atT	p.I328I	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	328	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CAAGGTCAATGATGTAGGGCT	0.433																																						uc001cbi.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(982-984)ATC>ATT		Smad nuclear interacting protein							165.0	146.0	152.0					1																	38003556		2203	4300	6503	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003556G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.984C>T	1.37:g.38003556G>A						SNIP1_uc010oid.1_RNA	p.I328I	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			4	1057	-		Myeloproliferative disorder(586;0.0393)	328			FHA.		Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.984C>T	CCDS419.1																																																																																				0.433	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2		NM_024700		30	52	0	0	0	0.013726	0	30	52		
CCDC18	343099	broad.mit.edu	37	1	93692001	93692001	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:93692001G>A	ENST00000343253.7	+	17	2786	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	CCDC18_ENST00000338949.4_Missense_Mutation_p.E518K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E763K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E58K|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E881K			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	762										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)		GAAGAAATCTGAAGAGGTAAA	0.249																																						uc001dpq.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2641-2643)GAA>AAA		sarcoma antigen NY-SAR-41							38.0	38.0	38.0					1																	93692001		1786	4051	5837	SO:0001583	missense	343099							g.chr1:93692001G>A			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.2284G>A	1.37:g.93692001G>A	ENSP00000343377:p.Glu762Lys					CCDC18_uc009wdl.1_Missense_Mutation_p.E398K	p.E881K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2809	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	762			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2641G>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.744754	0.89663	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.23	5.23	0.72850	.	0.193668	0.46758	D	0.000276	T	0.24661	0.0598	L	0.55481	1.735	0.50813	D	0.999898	P;D	0.55385	0.93;0.971	P;P	0.55749	0.71;0.783	T	0.00804	-1.1559	10	0.59425	D	0.04	.	19.1742	0.93597	0.0:0.0:1.0:0.0	.	762;881	Q5T9S5;G3V388	CCD18_HUMAN;.	K	762;763;881;518;58;438	ENSP00000343377:E762K;ENSP00000383808:E763K;ENSP00000451099:E881K;ENSP00000344380:E518K;ENSP00000334084:E58K;ENSP00000391151:E438K	ENSP00000334084:E58K	E	+	1	0	CCDC18	93464589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.199000	0.58426	2.580000	0.87095	0.650000	0.86243	GAA		0.249	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1		NM_206886		12	26	0	0	0	0.004007	0	12	26		
DPYD	1806	broad.mit.edu	37	1	97981460	97981460	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:97981460A>T	ENST00000370192.3	-	13	1662	c.1562T>A	c.(1561-1563)cTa>cAa	p.L521Q		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	521					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AAAGAGGGGTAGTTCAGGCTT	0.388																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(1561-1563)CTA>CAA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						68.0	64.0	65.0					1																	97981460		2203	4299	6502	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97981460A>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1562T>A	1.37:g.97981460A>T	ENSP00000359211:p.Leu521Gln						p.L521Q	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	13	1699	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	521					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1562T>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.501977	0.44455	.	.	ENSG00000188641	ENST00000370192	D	0.94723	-3.5	5.2	5.2	0.72013	.	0.077491	0.52532	D	0.000064	D	0.97195	0.9083	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.98096	1.0412	10	0.87932	D	0	-5.7387	15.3563	0.74428	1.0:0.0:0.0:0.0	.	521	Q12882	DPYD_HUMAN	Q	521	ENSP00000359211:L521Q	ENSP00000359211:L521Q	L	-	2	0	DPYD	97754048	1.000000	0.71417	0.013000	0.15412	0.011000	0.07611	8.837000	0.92110	2.088000	0.63022	0.477000	0.44152	CTA		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		7	51	0	0	0	0.010729	0	7	51		
DPYD	1806	broad.mit.edu	37	1	98039506	98039506	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:98039506T>C	ENST00000370192.3	-	11	1249	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	383					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATTCACACTTTTCTTCCTTAG	0.368																																						uc001drv.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(1147-1149)GAA>GAG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						72.0	67.0	69.0					1																	98039506		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039506T>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1149A>G	1.37:g.98039506T>C							p.E383E	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1286	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	383					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.1149A>G	CCDS30777.1																																																																																				0.368	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110		16	29	0	0	0	0.007413	0	16	29		
PALMD	54873	broad.mit.edu	37	1	100154591	100154591	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:100154591G>C	ENST00000263174.4	+	7	1150	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	PALMD_ENST00000605497.1_Missense_Mutation_p.E259Q	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	259					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAGTATCATGAGCCTGTATA	0.453																																						uc001dsg.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(775-777)GAG>CAG		palmdelphin							85.0	89.0	88.0					1																	100154591		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154591G>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.775G>C	1.37:g.100154591G>C	ENSP00000263174:p.Glu259Gln					PALMD_uc001dsf.2_Missense_Mutation_p.E259Q	p.E259Q	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	7	1218	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	259					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.775G>C	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050648	0.75960	.	.	ENSG00000099260	ENST00000263174	T	0.22336	1.96	5.83	5.83	0.93111	.	0.169480	0.50627	D	0.000104	T	0.37128	0.0992	M	0.65975	2.015	0.51482	D	0.99992	D;D	0.63046	0.978;0.992	P;P	0.62560	0.853;0.904	T	0.03202	-1.1061	10	0.51188	T	0.08	-10.5268	20.1374	0.98035	0.0:0.0:1.0:0.0	.	259;179	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	Q	259	ENSP00000263174:E259Q	ENSP00000263174:E259Q	E	+	1	0	PALMD	99927179	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	6.548000	0.73896	2.763000	0.94921	0.563000	0.77884	GAG		0.453	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1		NM_017734		37	78	0	0	0	0.013114	0	37	78		
COL11A1	1301	broad.mit.edu	37	1	103487275	103487275	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:103487275T>C	ENST00000370096.3	-	9	1608	c.1296A>G	c.(1294-1296)gcA>gcG	p.A432A	COL11A1_ENST00000358392.2_Silent_p.A444A|COL11A1_ENST00000512756.1_Silent_p.A316A|COL11A1_ENST00000353414.4_Silent_p.A393A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	432	Triple-helical region (interrupted).				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)			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)		GCTCAACCACTGCTGGTTCTC	0.358																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1294-1296)GCA>GCG		alpha 1 type XI collagen isoform A							156.0	144.0	148.0					1																	103487275		2203	4300	6503	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.chr1:103487275T>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.1296A>G	1.37:g.103487275T>C						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.A444A|COL11A1_uc001dun.2_Silent_p.A393A|COL11A1_uc009weh.2_Silent_p.A316A	p.A432A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1614	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	432			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1296A>G	CCDS778.1																																																																																				0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630		26	35	0	0	0	0.004878	0	26	35		
POLR3C	10623	broad.mit.edu	37	1	145609263	145609263	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:145609263C>G	ENST00000334163.3	-	2	234	c.74G>C	c.(73-75)gGa>gCa	p.G25A	RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.G25A	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	25					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CAGATGGACTCCAATTTTTTC	0.428																																						uc001eoh.2		NaN																	0				ovary(1)	1						c.(73-75)GGA>GCA		polymerase (RNA) III (DNA directed) polypeptide							124.0	116.0	119.0					1																	145609263		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145609263C>G	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.74G>C	1.37:g.145609263C>G	ENSP00000334564:p.Gly25Ala					NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.G38A|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.G25A	p.G25A	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		2	235	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		25					O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.74G>C	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570894	0.86542	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.47177	0.85;0.86	5.32	5.32	0.75619	RNA polymerase III subunit RPC82-related, helix-turn-helix (1);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.33293	1	0.80722	D	1	D;P;D	0.60160	0.987;0.86;0.965	P;B;P	0.53006	0.53;0.375;0.715	T	0.05370	-1.0889	10	0.16896	T	0.51	-14.6796	16.478	0.84137	0.0:1.0:0.0:0.0	.	25;25;25	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	A	25	ENSP00000334564:G25A;ENSP00000358300:G25A	ENSP00000334564:G25A	G	-	2	0	POLR3C	144320620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.063000	0.76714	2.467000	0.83353	0.591000	0.81541	GGA		0.428	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1		NM_006468		16	72	0	0	0	0.008871	0	16	72		
SV2A	9900	broad.mit.edu	37	1	149884828	149884828	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:149884828C>T	ENST00000369146.3	-	2	1055	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	SV2A_ENST00000369145.1_Missense_Mutation_p.V189M	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	189					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)			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)	CTGGGCAGCACGAAGCCCACC	0.582																																						uc001etg.2		NaN																	0				ovary(6)|pancreas(1)	7						c.(565-567)GTG>ATG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						119.0	111.0	114.0					1																	149884828		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884828C>T	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.565G>A	1.37:g.149884828C>T	ENSP00000358142:p.Val189Met					SV2A_uc001eth.2_Missense_Mutation_p.V189M	p.V189M	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	1056	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		189			Helical; (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.565G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647194	0.87958	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.60171	0.21;0.21	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.76513	0.3998	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80788	-0.1226	10	0.87932	D	0	-23.3435	17.5091	0.87755	0.0:1.0:0.0:0.0	.	189	Q7L0J3	SV2A_HUMAN	M	189	ENSP00000358142:V189M;ENSP00000358141:V189M	ENSP00000358141:V189M	V	-	1	0	SV2A	148151452	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.651000	0.83577	2.606000	0.88127	0.655000	0.94253	GTG		0.582	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1				105	87	0	0	0	0.01441	0	105	87		
RPTN	126638	broad.mit.edu	37	1	152129435	152129435	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:152129435C>T	ENST00000316073.3	-	3	204	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCATTTGGTCTCTGTTAGGA	0.433																																						uc001ezs.1		NaN																	0					0						c.(139-141)AGA>AAA		repetin							99.0	85.0	89.0					1																	152129435		1568	3582	5150	SO:0001630	splice_region_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129435C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.139-1G>A	1.37:g.152129435C>T							p.R47K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	205	-			47			S-100-like (By similarity).|EF-hand 1.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.140G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515036	0.85389	.	.	ENSG00000215853	ENST00000316073	T	0.08282	3.11	5.03	5.03	0.67393	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.16041	0.0386	M	0.69248	2.105	0.29594	N	0.848181	D	0.76494	0.999	D	0.85130	0.997	T	0.01889	-1.1253	9	0.40728	T	0.16	-11.8783	13.846	0.63468	0.0:1.0:0.0:0.0	.	47	Q6XPR3	RPTN_HUMAN	K	47	ENSP00000317895:R47K	ENSP00000317895:R47K	R	-	2	0	RPTN	150396059	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.933000	0.28897	2.331000	0.79229	0.542000	0.68232	AGA		0.433	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		XM_371312	Missense_Mutation	9	156	0	0	0	0.010729	0	9	156		
S100A9	6280	broad.mit.edu	37	1	153330787	153330787	+	Missense_Mutation	SNP	C	C	T	rs140601192	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:153330787C>T	ENST00000368738.3	+	2	71	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	antioxidant activity (GO:0016209)|arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|signal transducer activity (GO:0004871)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAACGCAACATAGA	0.478													C|||	18	0.00359425	0.0113	0.0029	5008	,	,		20801	0.0		0.0	False		,,,				2504	0.001					uc001fbq.2		NaN																	0					0						c.(28-30)CGC>TGC		S100 calcium-binding protein A9		C	CYS/ARG	23,4383	29.0+/-57.7	0,23,2180	111.0	99.0	103.0		28	-8.9	0.0	1	dbSNP_134	103	0,8600		0,0,4300	yes	missense	S100A9	NM_002965.3	180	0,23,6480	TT,TC,CC		0.0,0.522,0.1768	benign	10/115	153330787	23,12983	2203	4300	6503	SO:0001583	missense	6280				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity	g.chr1:153330787C>T	BC047681	CCDS1036.1	1q21	2013-01-10	2006-09-11		ENSG00000163220	ENSG00000163220		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10499	protein-coding gene	gene with protein product		123886	"""S100 calcium-binding protein A9 (calgranulin B)"", ""S100 calcium binding protein A9 (calgranulin B)"""	CAGB, CFAG			Standard	NM_002965		Approved	P14, MIF, NIF, LIAG, MRP14, MAC387, 60B8AG, CGLB	uc001fbq.3	P06702	OTTHUMG00000013125	ENST00000368738.3:c.28C>T	1.37:g.153330787C>T	ENSP00000357727:p.Arg10Cys						p.R10C	NM_002965	NP_002956	P06702	S10A9_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	71	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		10					D3DV36|Q6FGA1|Q9NYM0|Q9UCJ1	Missense_Mutation	SNP	ENST00000368738.3	37	c.28C>T	CCDS1036.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.704	1.155373	0.21454	0.00522	0.0	ENSG00000163220	ENST00000368738	T	0.11385	2.78	4.45	-8.9	0.00782	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	2.040550	0.01851	N	0.035918	T	0.01523	0.0049	N	0.21324	0.655	0.19300	N	0.99998	B	0.23185	0.081	B	0.17098	0.017	T	0.23261	-1.0193	10	0.44086	T	0.13	.	3.5713	0.07918	0.565:0.132:0.0897:0.2133	.	10	P06702	S10A9_HUMAN	C	10	ENSP00000357727:R10C	ENSP00000357727:R10C	R	+	1	0	S100A9	151597411	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-4.267000	0.00263	-2.369000	0.00603	-0.475000	0.04921	CGC		0.478	S100A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036793.1		NM_002965		39	105	0	0	0	0.01441	0	39	105		
MEX3A	92312	broad.mit.edu	37	1	156046708	156046708	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:156046708G>C	ENST00000532414.2	-	2	1219	c.1220C>G	c.(1219-1221)tCt>tGt	p.S407C	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	407	Poly-Ser.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ggaggaggcagaggagaagAG	0.726																																						uc001fnd.3		NaN																	0					0						c.(1219-1221)TCT>TGT		MEX3A protein							9.0	13.0	12.0					1																	156046708		1997	4131	6128	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046708G>C	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1220C>G	1.37:g.156046708G>C	ENSP00000432845:p.Ser407Cys						p.S407C	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	1220	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		407			Poly-Ser.			Missense_Mutation	SNP	ENST00000532414.2	37	c.1220C>G	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203305	0.38905	.	.	ENSG00000254726	ENST00000532414	T	0.47177	0.85	5.09	5.09	0.68999	.	0.213956	0.30185	N	0.010201	T	0.31575	0.0801	N	0.14661	0.345	0.22811	N	0.998702	D	0.76494	0.999	P	0.58454	0.839	T	0.13953	-1.0490	10	0.32370	T	0.25	.	13.8621	0.63566	0.0:0.0:1.0:0.0	.	407	A1L020	MEX3A_HUMAN	C	407	ENSP00000432845:S407C	ENSP00000432845:S407C	S	-	2	0	MEX3A	154313332	0.888000	0.30383	0.996000	0.52242	0.981000	0.71138	2.136000	0.42121	2.655000	0.90218	0.551000	0.68910	TCT		0.726	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3		NM_001093725		4	5	0	0	0	0.000602	0	4	5		
OR10K1	391109	broad.mit.edu	37	1	158435644	158435644	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:158435644C>G	ENST00000289451.2	+	1	373	c.293C>G	c.(292-294)gCc>gGc	p.A98G		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTGGGCTGTGCCATCCAAATG	0.493																																						uc010pij.1		NaN																	0				ovary(1)	1						c.(292-294)GCC>GGC		olfactory receptor, family 10, subfamily K,							191.0	188.0	189.0					1																	158435644		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435644C>G	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.293C>G	1.37:g.158435644C>G	ENSP00000289451:p.Ala98Gly						p.A98G	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	293	+	all_hematologic(112;0.0378)		98			Extracellular (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.293C>G	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	4.293	0.053555	0.08291	.	.	ENSG00000173285	ENST00000289451	T	0.00406	7.55	4.26	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.539313	0.15434	N	0.262548	T	0.00109	0.0003	L	0.55213	1.73	0.09310	N	0.999999	P	0.42078	0.77	B	0.35073	0.195	T	0.18272	-1.0342	10	0.52906	T	0.07	.	3.6966	0.08367	0.0:0.5217:0.1902:0.2881	.	98	Q8NGX5	O10K1_HUMAN	G	98	ENSP00000289451:A98G	ENSP00000289451:A98G	A	+	2	0	OR10K1	156702268	0.000000	0.05858	1.000000	0.80357	0.086000	0.17979	0.508000	0.22692	0.423000	0.26033	-0.312000	0.09012	GCC		0.493	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1				4	123	0	0	0	0.001168	0	4	123		
OR10X1	128367	broad.mit.edu	37	1	158549434	158549434	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:158549434C>T	ENST00000368150.1	-	1	255	c.256G>A	c.(256-258)Gag>Aag	p.E86K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TAGCAGGTCTCAGAGAAGGAG	0.498																																						uc010pin.1		NaN																	0				ovary(1)	1						c.(256-258)GAG>AAG		olfactory receptor, family 10, subfamily X,							109.0	103.0	105.0					1																	158549434		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549434C>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.256G>A	1.37:g.158549434C>T	ENSP00000357132:p.Glu86Lys						p.E86K	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	256	-	all_hematologic(112;0.0378)		86			Helical; Name=2; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.256G>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987911	0.93106	.	.	ENSG00000186400	ENST00000368150	T	0.38240	1.15	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000146	T	0.62841	0.2461	M	0.90483	3.12	0.42993	D	0.994495	D	0.71674	0.998	D	0.77004	0.989	T	0.71163	-0.4673	10	0.87932	D	0	.	17.5191	0.87782	0.0:1.0:0.0:0.0	.	86	Q8NGY0	O10X1_HUMAN	K	86	ENSP00000357132:E86K	ENSP00000357132:E86K	E	-	1	0	OR10X1	156816058	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.081000	0.64444	2.648000	0.89879	0.650000	0.86243	GAG		0.498	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2		NM_001004477		18	42	0	0	0	0.008871	0	18	42		
ASPM	259266	broad.mit.edu	37	1	197072567	197072567	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:197072567C>T	ENST00000367409.4	-	18	6070	c.5814G>A	c.(5812-5814)agG>agA	p.R1938R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1938					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TACATTGCTTCCTTCCTGCAG	0.423																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(5812-5814)AGG>AGA		asp (abnormal spindle)-like, microcephaly							205.0	202.0	203.0					1																	197072567		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072567C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5814G>A	1.37:g.197072567C>T						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.R1938R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6071	-			1938					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5814G>A	CCDS1389.1																																																																																				0.423	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		59	158	0	0	0	0.01441	0	59	158		
MDM4	4194	broad.mit.edu	37	1	204501325	204501325	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:204501325C>G	ENST00000367182.3	+	5	456	c.294C>G	c.(292-294)ctC>ctG	p.L98L	MDM4_ENST00000391947.2_Silent_p.L98L|MDM4_ENST00000367180.1_Silent_p.L98L|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Silent_p.L98L|MDM4_ENST00000454264.2_Silent_p.L98L	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	98	SWIB.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACAGCCCTCTCTATGATATGC	0.358			A		"""GBM, bladder, retinoblastoma"""																																	uc001hba.2		NaN		Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			GBM|bladder|retinoblastoma		0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(292-294)CTC>CTG		mouse double minute 4 homolog							156.0	147.0	150.0					1																	204501325		2203	4300	6503	SO:0001819	synonymous_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204501325C>G	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.294C>G	1.37:g.204501325C>G						MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_5'UTR|MDM4_uc001hay.1_Silent_p.L98L|MDM4_uc001hbb.2_5'UTR|MDM4_uc010pqy.1_RNA|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	p.L98L	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		5	456	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		98			SWIB.		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Silent	SNP	ENST00000367182.3	37	c.294C>G	CCDS1447.1																																																																																				0.358	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2		NM_002393		16	38	0	0	0	0.012319	0	16	38		
SYT14	255928	broad.mit.edu	37	1	210187104	210187104	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:210187104C>G	ENST00000472886.1	+	3	202	c.188C>G	c.(187-189)tCa>tGa	p.S63*	SYT14_ENST00000422431.1_Nonsense_Mutation_p.S108*|SYT14_ENST00000367015.1_Nonsense_Mutation_p.S25*|SYT14_ENST00000367019.1_Nonsense_Mutation_p.S63*|SYT14_ENST00000399639.2_Nonsense_Mutation_p.S63*|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Nonsense_Mutation_p.S63*|SYT14_ENST00000537238.1_Nonsense_Mutation_p.S25*			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	63					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATCTTGGTTCAGAATACAGT	0.328																																						uc009xcv.2		NaN																	0				ovary(1)|skin(1)	2						c.(187-189)TCA>TGA		synaptotagmin XIV isoform 4							99.0	106.0	104.0					1																	210187104		2203	4300	6503	SO:0001587	stop_gained	255928					integral to membrane		g.chr1:210187104C>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.188C>G	1.37:g.210187104C>G	ENSP00000418901:p.Ser63*					SYT14_uc001hhs.3_Nonsense_Mutation_p.S108*|SYT14_uc001hht.3_Nonsense_Mutation_p.S63*|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Nonsense_Mutation_p.S108*|SYT14_uc010pso.1_Nonsense_Mutation_p.S25*	p.S63*	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	3	260	+			63			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Nonsense_Mutation	SNP	ENST00000472886.1	37	c.188C>G	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	36	5.655773	0.96724	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	.	.	.	5.05	5.05	0.67936	.	0.552287	0.17769	N	0.162660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.1995	17.3916	0.87432	0.0:1.0:0.0:0.0	.	.	.	.	X	108;63;63;25;63;63;25	.	ENSP00000355982:S25X	S	+	2	0	SYT14	208253727	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	5.075000	0.64407	2.352000	0.79861	0.460000	0.39030	TCA		0.328	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1		NM_153262		14	68	0	0	0	0.004007	0	14	68		
MIA3	375056	broad.mit.edu	37	1	222833629	222833629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:222833629C>T	ENST00000344922.5	+	24	5111	c.5086C>T	c.(5086-5088)Cga>Tga	p.R1696*	MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1696*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R574*|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1696	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TACTCTCAATCGAAGAGATAT	0.463																																						uc001hnl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(5086-5088)CGA>TGA		melanoma inhibitory activity family, member 3							89.0	86.0	87.0					1																	222833629		1872	4118	5990	SO:0001587	stop_gained	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222833629C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5086C>T	1.37:g.222833629C>T	ENSP00000340900:p.Arg1696*					MIA3_uc001hnm.2_Nonsense_Mutation_p.R574*	p.R1696*	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	24	5095	+			1696			Pro-rich.|Cytoplasmic (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	c.5086C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	45	11.557743	0.99576	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3906	0.74741	0.1393:0.8607:0.0:0.0	.	.	.	.	X	1696;1696;1637;574;574	.	ENSP00000284471:R574X	R	+	1	2	MIA3	220900252	0.859000	0.29813	0.763000	0.31416	0.649000	0.38597	2.792000	0.47837	2.890000	0.99128	0.655000	0.94253	CGA		0.463	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551		19	54	0	0	0	0.004656	0	19	54		
ITPKB	3707	broad.mit.edu	37	1	226827299	226827299	+	Missense_Mutation	SNP	C	C	T	rs564970025		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:226827299C>T	ENST00000272117.3	-	5	2511	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	ITPKB_ENST00000429204.1_Missense_Mutation_p.E838K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	838					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGAAGGCCTCGGTGACCTGC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17378	0.0		0.0	False		,,,				2504	0.0				Colon(84;110 1851 5306 33547)	uc010pvo.1		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2512-2514)GAG>AAG		1D-myo-inositol-trisphosphate 3-kinase B							192.0	173.0	179.0					1																	226827299		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226827299C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2512G>A	1.37:g.226827299C>T	ENSP00000272117:p.Glu838Lys						p.E838K	NM_002221	NP_002212	P27987	IP3KB_HUMAN			6	2852	-		Prostate(94;0.0773)	838					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2512G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266102	0.59540	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.14022	2.54;2.54	4.33	3.4	0.38934	.	0.365437	0.30365	N	0.009800	T	0.09158	0.0226	N	0.26130	0.795	0.41670	D	0.989233	B	0.18461	0.028	B	0.15484	0.013	T	0.09640	-1.0665	10	0.07325	T	0.83	-3.488	14.1799	0.65566	0.0:0.849:0.151:0.0	.	838	P27987	IP3KB_HUMAN	K	838	ENSP00000272117:E838K;ENSP00000411152:E838K	ENSP00000272117:E838K	E	-	1	0	ITPKB	224893922	0.990000	0.36364	0.939000	0.37840	0.968000	0.65278	2.933000	0.48948	0.809000	0.34255	0.449000	0.29647	GAG		0.567	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		NM_002221		16	35	0	0	0	0.003954	0	16	35		
NID1	4811	broad.mit.edu	37	1	236205225	236205225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:236205225C>A	ENST00000264187.6	-	4	1202	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E374*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	374					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCTGTTTCCTCAACTTCATCC	0.512																																						uc001hxo.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(1120-1122)GAG>TAG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						66.0	68.0	67.0					1																	236205225		2203	4300	6503	SO:0001587	stop_gained	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205225C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1120G>T	1.37:g.236205225C>A	ENSP00000264187:p.Glu374*					NID1_uc009xgd.2_Nonsense_Mutation_p.E374*	p.E374*	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1222	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	374					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	ENST00000264187.6	37	c.1120G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	37	6.346554	0.97494	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	5.81	5.81	0.92471	.	0.837731	0.11123	N	0.597177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.2504	0.90000	0.0:1.0:0.0:0.0	.	.	.	.	X	374	.	ENSP00000264187:E374X	E	-	1	0	NID1	234271848	0.994000	0.37717	0.965000	0.40720	0.393000	0.30537	3.458000	0.53014	2.749000	0.94314	0.563000	0.77884	GAG		0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2		NM_002508		27	42	1	0	4.39465e-27	0.013726	4.8072e-27	27	42		
OR2T6	254879	broad.mit.edu	37	1	248550938	248550938	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:248550938G>C	ENST00000355728.2	+	1	29	c.29G>C	c.(28-30)aGa>aCa	p.R10T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTGACCAGAGGCTTTACC	0.408																																						uc001iei.1		NaN																	0				ovary(2)|skin(1)	3						c.(28-30)AGA>ACA		olfactory receptor, family 2, subfamily T,							112.0	112.0	112.0					1																	248550938		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550938G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.29G>C	1.37:g.248550938G>C	ENSP00000347965:p.Arg10Thr						p.R10T	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	29	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		10			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.29G>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459553	0.12342	.	.	ENSG00000198104	ENST00000355728	T	0.00366	7.79	4.9	1.48	0.22813	.	0.737577	0.12284	N	0.482643	T	0.00073	0.0002	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.10902	T	0.67	.	3.9511	0.09369	0.0976:0.4343:0.3319:0.1363	.	10	Q8NHC8	OR2T6_HUMAN	T	10	ENSP00000347965:R10T	ENSP00000347965:R10T	R	+	2	0	OR2T6	246617561	0.000000	0.05858	0.096000	0.21009	0.028000	0.11728	0.005000	0.13129	0.549000	0.28973	0.643000	0.83706	AGA		0.408	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1		NM_001005471		14	62	0	0	0	0.010504	0	14	62		
FAM208B	54906	broad.mit.edu	37	10	5798582	5798582	+	Silent	SNP	C	C	T	rs369777988		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:5798582C>T	ENST00000328090.5	+	16	7238	c.6613C>T	c.(6613-6615)Ctg>Ttg	p.L2205L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2205																	TCAGAACCTTCTGAGGAAAGG	0.338																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6613-6615)CTG>TTG		hypothetical protein LOC54906		C		1,3651		0,1,1825	91.0	80.0	84.0		6613	4.9	1.0	10		84	0,8154		0,0,4077	no	coding-synonymous	FAM208B	NM_017782.4		0,1,5902	TT,TC,CC		0.0,0.0274,0.0085		2205/2431	5798582	1,11805	1826	4077	5903	SO:0001819	synonymous_variant	54906							g.chr10:5798582C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6613C>T	10.37:g.5798582C>T						C10orf18_uc001iik.2_Silent_p.L1049L	p.L2205L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			16	7238	+			2205					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.6613C>T	CCDS41485.1																																																																																				0.338	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		17	36	0	0	0	0.00333	0	17	36		
ATP5C1	509	broad.mit.edu	37	10	7829810	7829810	+	5'Flank	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:7829810C>G	ENST00000356708.7	+	0	0				KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Q29H|ATP5C1_ENST00000541227.1_5'Flank|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000379562.4_Missense_Mutation_p.Q29H	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCACATCTGGCAATACC	0.627																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001ijt.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(85-87)CAG>CAC		HsKin17 protein							110.0	111.0	111.0					10																	7829810		2203	4300	6503	SO:0001631	upstream_gene_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7829810C>G	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		10.37:g.7829810C>G	Exception_encountered					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.Q29H|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	p.Q29H	NM_012311	NP_036443	O60870	KIN17_HUMAN			1	135	-			29			C2H2-type.		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.87G>C	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384886	0.82792	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	5.97	3.11	0.35812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	H	0.94183	3.505	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.68903	-0.5286	9	0.87932	D	0	-23.4797	6.7577	0.23523	0.0:0.6711:0.1275:0.2014	.	29;29	B4DX32;O60870	.;KIN17_HUMAN	H	29	.	ENSP00000368881:Q29H	Q	-	3	2	KIN	7869816	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.208000	0.42797	0.412000	0.25729	0.557000	0.71058	CAG		0.627	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1		NM_005174		73	117	0	0	0	0.01441	0	73	117		
SEPHS1	22929	broad.mit.edu	37	10	13361208	13361208	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:13361208C>G	ENST00000327347.5	-	9	1488	c.1113G>C	c.(1111-1113)cgG>cgC	p.R371R	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000378614.4_Silent_p.R300R|SEPHS1_ENST00000537130.1_Silent_p.R304R	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	371					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CCTCGATGATCCGGGGTTTGT	0.478																																						uc001imk.2		NaN																	0				skin(1)	1						c.(1111-1113)CGG>CGC		selenophosphate synthetase 1							231.0	230.0	230.0					10																	13361208		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361208C>G	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1113G>C	10.37:g.13361208C>G						SEPHS1_uc001imh.2_Silent_p.R295R|SEPHS1_uc010qbs.1_Silent_p.R323R|SEPHS1_uc001imi.2_Silent_p.R369R|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Silent_p.R304R	p.R371R	NM_012247	NP_036379	P49903	SPS1_HUMAN			9	1472	-			371					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.1113G>C	CCDS7098.1																																																																																				0.478	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1		NM_012247		79	195	0	0	0	0.01441	0	79	195		
PIP4K2A	5305	broad.mit.edu	37	10	22830915	22830915	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:22830915C>G	ENST00000376573.4	-	8	1082	c.854G>C	c.(853-855)aGa>aCa	p.R285T	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R226T|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.R145T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	285	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CTGTTCGGCTCTCTCCACATC	0.607																																						uc001irl.3		NaN																	0				ovary(1)|skin(1)	2						c.(853-855)AGA>ACA		phosphatidylinositol-5-phosphate 4-kinase, type							81.0	73.0	76.0					10																	22830915		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830915C>G	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.854G>C	10.37:g.22830915C>G	ENSP00000365757:p.Arg285Thr					PIP4K2A_uc010qcu.1_Missense_Mutation_p.R145T	p.R285T	NM_005028	NP_005019	P48426	PI42A_HUMAN			8	1102	-			285			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.854G>C	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648556	0.87958	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.31247	1.5;1.5;1.5	6.07	6.07	0.98685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.051937	0.85682	D	0.000000	T	0.52549	0.1741	M	0.83953	2.67	0.80722	D	1	P;P	0.41947	0.766;0.612	P;P	0.51945	0.58;0.685	T	0.54125	-0.8340	10	0.66056	D	0.02	-28.5588	14.7514	0.69528	0.0:0.9316:0.0:0.0684	.	145;285	B4DH09;P48426	.;PI42A_HUMAN	T	285;145;226	ENSP00000365757:R285T;ENSP00000326294:R145T;ENSP00000442098:R226T	ENSP00000326294:R145T	R	-	2	0	PIP4K2A	22870921	1.000000	0.71417	0.989000	0.46669	0.686000	0.39977	4.615000	0.61190	2.884000	0.98904	0.655000	0.94253	AGA		0.607	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		NM_005028		33	56	0	0	0	0.004878	0	33	56		
MPP7	143098	broad.mit.edu	37	10	28348590	28348590	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:28348590T>C	ENST00000375732.1	-	14	1546	c.1287A>G	c.(1285-1287)gtA>gtG	p.V429V	MPP7_ENST00000337532.5_Silent_p.V429V|MPP7_ENST00000445954.2_Silent_p.V304V|MPP7_ENST00000540098.1_Silent_p.V429V|MPP7_ENST00000375719.3_Silent_p.V429V			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	429	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTTATTTTGTACATCTGTCT	0.358																																						uc001iua.1		NaN																	0				ovary(1)	1						c.(1285-1287)GTA>GTG		palmitoylated membrane protein 7							110.0	107.0	108.0					10																	28348590		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28348590T>C	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1287A>G	10.37:g.28348590T>C						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.V429V|MPP7_uc009xla.2_Silent_p.V429V|MPP7_uc010qdv.1_RNA	p.V429V	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			16	1691	-			429			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1287A>G	CCDS7158.1																																																																																				0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1		NM_173496		3	76	0	0	0	0.009096	0	3	76		
ARHGAP12	94134	broad.mit.edu	37	10	32096725	32096725	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:32096725T>C	ENST00000344936.2	-	20	2636	c.2402A>G	c.(2401-2403)tAt>tGt	p.Y801C	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Y796C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Y749C|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.Y771C|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Y749C	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	801	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TATACTCTGATAGGTCATTCG	0.328																																						uc001ivz.1		NaN																	0					0						c.(2401-2403)TAT>TGT		Rho GTPase activating protein 12							67.0	71.0	70.0					10																	32096725		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32096725T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.2402A>G	10.37:g.32096725T>C	ENSP00000345808:p.Tyr801Cys					ARHGAP12_uc001ivy.1_Missense_Mutation_p.Y747C|ARHGAP12_uc009xls.2_Missense_Mutation_p.Y752C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Y794C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Y769C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Y722C|ARHGAP12_uc001ivw.1_RNA|ARHGAP12_uc001ivx.1_Missense_Mutation_p.Y100C	p.Y801C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			20	2672	-		Prostate(175;0.0199)	801			Rho-GAP.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.2402A>G	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053277	0.36181	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.25	5.25	0.73442	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.182513	0.48767	D	0.000179	T	0.22859	0.0552	N	0.10782	0.045	0.43761	D	0.996277	D;D;D;D;D;P	0.76494	0.994;0.998;0.999;0.999;0.999;0.901	D;P;D;D;D;P	0.68353	0.957;0.893;0.935;0.935;0.936;0.744	T	0.17992	-1.0351	10	0.44086	T	0.13	.	15.4521	0.75282	0.0:0.0:0.0:1.0	.	754;771;796;801;749;100	Q1RLN5;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3;Q9NV28	.;.;.;RHG12_HUMAN;.;.	C	749;771;801;796;749	ENSP00000310984:Y749C;ENSP00000364399:Y771C;ENSP00000345808:Y801C;ENSP00000379448:Y796C;ENSP00000364394:Y749C	ENSP00000310984:Y749C	Y	-	2	0	ARHGAP12	32136731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.447000	0.52936	2.109000	0.64355	0.528000	0.53228	TAT		0.328	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1				12	30	0	0	0	0.00245	0	12	30		
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						uc001iza.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1057-1059)GCA>CCA		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro						p.A353P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		5	74	0	0	0	0.001984	0	5	74		
RET	5979	broad.mit.edu	37	10	43619223	43619223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:43619223G>A	ENST00000355710.3	+	17	3138	c.2906G>A	c.(2905-2907)cGg>cAg	p.R969Q	RET_ENST00000340058.5_Missense_Mutation_p.R969Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	969	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCGGCCACCGGATGGAGAGG	0.597		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2905-2907)CGG>CAG		ret proto-oncogene isoform a	Sunitinib(DB01268)						71.0	75.0	74.0					10																	43619223		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619223G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2906G>A	10.37:g.43619223G>A	ENSP00000347942:p.Arg969Gln					RET_uc001jak.1_Missense_Mutation_p.R969Q|RET_uc010qez.1_Missense_Mutation_p.R715Q	p.R969Q	NM_020975	NP_066124	P07949	RET_HUMAN			17	3096	+		Ovarian(717;0.0423)	969			Protein kinase.|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2906G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436459	0.96168	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.84589	-1.87;-1.87	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94162	0.7415	10	0.87932	D	0	.	19.037	0.92983	0.0:0.0:1.0:0.0	.	715;969;969	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Q	969	ENSP00000347942:R969Q;ENSP00000344798:R969Q	ENSP00000344798:R969Q	R	+	2	0	RET	42939229	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	9.837000	0.99465	2.504000	0.84457	0.563000	0.77884	CGG		0.597	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		3	84	0	0	0	0.009096	0	3	84		
HNRNPF	3185	broad.mit.edu	37	10	43883167	43883167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:43883167C>G	ENST00000544000.1	-	4	573	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	HNRNPF_ENST00000443950.2_Missense_Mutation_p.E56Q|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E56Q|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.E56Q|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E56Q	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	56	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACAAAAGCCTCACCACTCTGC	0.493																																						uc009xmh.1		NaN																	0					0						c.(166-168)GAG>CAG		heterogeneous nuclear ribonucleoprotein F							134.0	124.0	127.0					10																	43883167		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883167C>G		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.166G>C	10.37:g.43883167C>G	ENSP00000438061:p.Glu56Gln					HNRNPF_uc001jar.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jas.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jat.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jav.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jau.2_Missense_Mutation_p.E56Q	p.E56Q	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	653	-			56			RRM 1.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.166G>C	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615869	0.66672	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	4.18	4.18	0.49190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	M	0.90309	3.105	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	T	0.31998	-0.9923	10	0.59425	D	0.04	-33.6856	14.8162	0.70036	0.0:1.0:0.0:0.0	.	56	P52597	HNRPF_HUMAN	Q	56	ENSP00000438061:E56Q;ENSP00000400433:E56Q;ENSP00000348345:E56Q;ENSP00000349573:E56Q;ENSP00000338477:E56Q	ENSP00000338477:E56Q	E	-	1	0	HNRNPF	43203173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.000000	0.76290	2.620000	0.88729	0.655000	0.94253	GAG		0.493	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2				25	38	0	0	0	0.010818	0	25	38		
SLC18A3	6572	broad.mit.edu	37	10	50819359	50819359	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:50819359C>T	ENST00000374115.3	+	1	1013	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	191					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.F191F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCAGCCTTCGCCGACACGT	0.657																																						uc001jhw.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(571-573)TTC>TTT		vesicular acetylcholine transporter							29.0	32.0	31.0					10																	50819359		2203	4299	6502	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819359C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.573C>T	10.37:g.50819359C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.F191F	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1013	+			191			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.573C>T	CCDS7231.1																																																																																				0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1		NM_003055		6	14	0	0	0	0.00308	0	6	14		
PCDH15	65217	broad.mit.edu	37	10	55581763	55581763	+	Missense_Mutation	SNP	A	A	T	rs568470164	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:55581763A>T	ENST00000320301.6	-	33	6117	c.5723T>A	c.(5722-5724)cTa>cAa	p.L1908Q	PCDH15_ENST00000395433.1_Missense_Mutation_p.L1885Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1839Q|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1868Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1905Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.L762Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1910Q|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1908					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTTGTGCGTAGATAGTTTTT	0.358										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5722-5724)CTA>CAA		protocadherin 15 isoform CD1-4 precursor							207.0	188.0	195.0					10																	55581763		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55581763A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5723T>A	10.37:g.55581763A>T	ENSP00000322604:p.Leu1908Gln	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.L762Q|PCDH15_uc010qhv.1_Missense_Mutation_p.L1905Q|PCDH15_uc010qhw.1_Missense_Mutation_p.L1868Q|PCDH15_uc010qhx.1_Missense_Mutation_p.L1839Q|PCDH15_uc010qhy.1_Missense_Mutation_p.L1915Q|PCDH15_uc010qhz.1_Missense_Mutation_p.L1910Q|PCDH15_uc010qia.1_Missense_Mutation_p.L1888Q|PCDH15_uc010qib.1_Missense_Mutation_p.L1885Q	p.L1908Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	6118	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1908			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5723T>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	3.031	-0.199726	0.06219	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T	0.59364	0.3;0.27;0.31;0.3;0.37;0.37;0.37	5.32	4.41	0.53225	.	.	.	.	.	T	0.36826	0.0981	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.31730	0.337;0.337;0.337;0.337;0.337;0.337;0.337;0.087;0.337	B;B;B;B;B;B;B;B;B	0.25759	0.063;0.063;0.063;0.063;0.063;0.063;0.063;0.033;0.063	T	0.17349	-1.0372	9	0.40728	T	0.16	.	8.7221	0.34447	0.2275:0.0:0.7725:0.0	.	1885;1908;1910;1915;1839;1868;1905;762;1908	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	1868;1910;1885;762;1908;1905;1915;1839	ENSP00000378820:L1868Q;ENSP00000354950:L1910Q;ENSP00000378821:L1885Q;ENSP00000363068:L762Q;ENSP00000322604:L1908Q;ENSP00000378818:L1905Q;ENSP00000412628:L1839Q	ENSP00000322604:L1908Q	L	-	2	0	PCDH15	55251769	0.956000	0.32656	0.015000	0.15790	0.037000	0.13140	1.985000	0.40668	1.225000	0.43566	-0.462000	0.05337	CTA		0.358	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		5	63	0	0	0	0.001168	0	5	63		
DLG5	9231	broad.mit.edu	37	10	79590569	79590569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:79590569G>C	ENST00000372391.2	-	10	1816	c.1811C>G	c.(1810-1812)tCc>tGc	p.S604C	DLG5_ENST00000372388.2_Missense_Mutation_p.S604C	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	604					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CGAGTCGTGGGAGCTGTGGGC	0.567																																						uc001jzk.2		NaN																	0				ovary(5)|breast(3)	8						c.(1810-1812)TCC>TGC		discs large homolog 5							121.0	98.0	106.0					10																	79590569		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79590569G>C	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1811C>G	10.37:g.79590569G>C	ENSP00000361467:p.Ser604Cys					DLG5_uc001jzj.2_Missense_Mutation_p.S359C|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S208C	p.S604C	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		10	1881	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		604					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1811C>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	33	5.230913	0.95207	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.19105	2.17;2.17	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.000000	0.38217	N	0.001770	T	0.44582	0.1300	L	0.50333	1.59	0.49051	D	0.999742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.26360	-1.0105	10	0.87932	D	0	.	19.7629	0.96329	0.0:0.0:1.0:0.0	.	494;604;604	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	C	604;604;153	ENSP00000361467:S604C;ENSP00000361464:S604C	ENSP00000361464:S604C	S	-	2	0	DLG5	79260575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.666000	0.90696	0.561000	0.74099	TCC		0.567	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2				10	35	0	0	0	0.010729	0	10	35		
BTAF1	9044	broad.mit.edu	37	10	93778679	93778679	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:93778679C>T	ENST00000265990.6	+	34	5158	c.4850C>T	c.(4849-4851)tCa>tTa	p.S1617L	BTAF1_ENST00000544642.1_Missense_Mutation_p.S445L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1617					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1617*(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCTAAGCTCTCAGCTTTGAAA	0.353																																						uc001khr.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4849-4851)TCA>TTA		BTAF1 RNA polymerase II, B-TFIID transcription							137.0	130.0	132.0					10																	93778679		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93778679C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4850C>T	10.37:g.93778679C>T	ENSP00000265990:p.Ser1617Leu						p.S1617L	NM_003972	NP_003963	O14981	BTAF1_HUMAN			34	4948	+		Colorectal(252;0.0846)	1617					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.4850C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810839	0.50421	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75050	-0.9;-0.9	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	N	0.12611	0.24	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.54002	-0.8358	10	0.25751	T	0.34	-16.0072	19.7838	0.96428	0.0:1.0:0.0:0.0	.	1617	O14981	BTAF1_HUMAN	L	1617;445;467	ENSP00000265990:S1617L;ENSP00000439924:S445L	ENSP00000265990:S1617L	S	+	2	0	BTAF1	93768659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.786000	0.85741	2.666000	0.90696	0.557000	0.71058	TCA		0.353	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		13	75	0	0	0	0.006122	0	13	75		
CNNM2	54805	broad.mit.edu	37	10	104679843	104679843	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:104679843G>C	ENST00000369878.4	+	1	1794	c.1606G>C	c.(1606-1608)Gaa>Caa	p.E536Q	CNNM2_ENST00000433628.2_Missense_Mutation_p.E536Q|CNNM2_ENST00000369875.3_Missense_Mutation_p.E536Q	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	536	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGCTATGCTGGAAGAATTTAA	0.463																																						uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1606-1608)GAA>CAA		cyclin M2 isoform 1							111.0	117.0	115.0					10																	104679843		2203	4300	6503	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104679843G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1606G>C	10.37:g.104679843G>C	ENSP00000358894:p.Glu536Gln					CNNM2_uc001kwn.2_Missense_Mutation_p.E536Q|CNNM2_uc001kwl.2_Missense_Mutation_p.E536Q	p.E536Q	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	1730	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	536			CBS 2.		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1606G>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658420	0.67586	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;T;D	0.94497	-3.44;-1.1;-3.44	5.55	5.55	0.83447	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	L	0.35593	1.075	0.80722	D	1	B;B;P	0.50710	0.369;0.253;0.938	B;B;P	0.58130	0.268;0.241;0.833	D	0.95042	0.8179	10	0.54805	T	0.06	.	19.4871	0.95033	0.0:0.0:1.0:0.0	.	536;536;536	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	Q	536	ENSP00000392875:E536Q;ENSP00000358891:E536Q;ENSP00000358894:E536Q	ENSP00000286899:E536Q	E	+	1	0	CNNM2	104669833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.604000	0.88044	0.561000	0.74099	GAA		0.463	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		27	94	0	0	0	0.012213	0	27	94		
CNNM2	54805	broad.mit.edu	37	10	104814140	104814140	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:104814140C>G	ENST00000369878.4	+	3	2008	c.1820C>G	c.(1819-1821)tCt>tGt	p.S607C	CNNM2_ENST00000433628.2_Missense_Mutation_p.S607C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	607					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGATTTTTCTGCCTTTAAG	0.433											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1819-1821)TCT>TGT		cyclin M2 isoform 1							66.0	67.0	67.0					10																	104814140		1953	4137	6090	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104814140C>G	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1820C>G	10.37:g.104814140C>G	ENSP00000358894:p.Ser607Cys		OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1384	CNNM2_uc001kwn.2_Missense_Mutation_p.S607C	p.S607C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	1944	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	607					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.1820C>G	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331856	0.81801	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.75704	-0.96;-0.96	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	D	0.90951	0.4805	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	607;607	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	C	607	ENSP00000392875:S607C;ENSP00000358894:S607C	ENSP00000286899:S607C	S	+	2	0	CNNM2	104804130	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	TCT		0.433	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		8	15	0	0	0	0.010729	0	8	15		
MKI67	4288	broad.mit.edu	37	10	129899669	129899669	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr10:129899669C>T	ENST00000368654.3	-	14	9933	c.9558G>A	c.(9556-9558)caG>caA	p.Q3186Q	MKI67_ENST00000368653.3_Silent_p.Q2826Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3186					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTCCCTTTCTGATTCTGCA	0.507																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(9556-9558)CAG>CAA		antigen identified by monoclonal antibody Ki-67							187.0	160.0	169.0					10																	129899669		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899669C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9558G>A	10.37:g.129899669C>T						MKI67_uc001lkf.2_Silent_p.Q2826Q	p.Q3186Q	NM_002417	NP_002408	P46013	KI67_HUMAN			14	9753	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3186					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9558G>A	CCDS7659.1																																																																																				0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		30	73	0	0	0	0.004289	0	30	73		
OR52I2	143502	broad.mit.edu	37	11	4608387	4608387	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:4608387C>T	ENST00000312614.4	+	1	367	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCATCTTCTGCTCAGGAG	0.512																																						uc010qyh.1		NaN																	0				pancreas(1)	1						c.(343-345)TTC>TTT		olfactory receptor, family 52, subfamily I,							227.0	216.0	220.0					11																	4608387		2201	4298	6499	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608387C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.345C>T	11.37:g.4608387C>T							p.F115F	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	345	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	115			Extracellular (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.345C>T	CCDS31355.1																																																																																				0.512	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1		NM_001005170		61	75	0	0	0	0.01441	0	61	75		
OR52I2	143502	broad.mit.edu	37	11	4608419	4608419	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:4608419C>G	ENST00000312614.4	+	1	399	c.377C>G	c.(376-378)gCt>gGt	p.A126G		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTAGTGCTTGTTTCACT	0.517																																						uc010qyh.1		NaN																	0				pancreas(1)	1						c.(376-378)GCT>GGT		olfactory receptor, family 52, subfamily I,							147.0	137.0	140.0					11																	4608419		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608419C>G	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.377C>G	11.37:g.4608419C>G	ENSP00000308764:p.Ala126Gly						p.A126G	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	377	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	126			Extracellular (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.377C>G	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	9.357	1.067069	0.20067	.	.	ENSG00000226288	ENST00000312614	T	0.01197	5.19	4.05	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.157917	0.29486	N	0.012019	T	0.02267	0.0070	L	0.35644	1.08	0.09310	N	1	D	0.69078	0.997	D	0.66196	0.942	T	0.49485	-0.8935	10	0.16896	T	0.51	-5.2141	6.8396	0.23955	0.0:0.5561:0.3477:0.0962	.	126	Q8NH67	O52I2_HUMAN	G	126	ENSP00000308764:A126G	ENSP00000308764:A126G	A	+	2	0	OR52I2	4564995	0.001000	0.12720	0.877000	0.34402	0.641000	0.38312	0.878000	0.28126	0.327000	0.23409	0.551000	0.68910	GCT		0.517	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1		NM_001005170		33	28	0	0	0	0.004878	0	33	28		
TRIM5	85363	broad.mit.edu	37	11	5686256	5686256	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:5686256G>A	ENST00000380034.3	-	8	1521	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Missense_Mutation_p.S422F|TRIM5_ENST00000380027.1_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GAAAGGAACAGAAGGAGTATG	0.398																																						uc001mbm.1		NaN																	0				ovary(1)	1						c.(1264-1266)TCT>TTT		tripartite motif protein TRIM5 isoform alpha							113.0	109.0	111.0					11																	5686256		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686256G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1265C>T	11.37:g.5686256G>A	ENSP00000369373:p.Ser422Phe					TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron	p.S422F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1522	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	422			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.1265C>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	G	5.423	0.263141	0.10294	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	T;T	0.66815	-0.23;-0.23	3.53	-7.05	0.01573	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	2.561330	0.01618	N	0.022867	T	0.54679	0.1873	L	0.55481	1.735	0.09310	N	1	B	0.15141	0.012	B	0.22880	0.042	T	0.32188	-0.9916	10	0.33141	T	0.24	.	1.504	0.02483	0.1532:0.2928:0.3029:0.2511	.	422	Q9C035	TRIM5_HUMAN	F	422	ENSP00000307031:S422F;ENSP00000369373:S422F	ENSP00000307031:S422F	S	-	2	0	TRIM5	5642832	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.935000	0.03950	-2.253000	0.00698	-2.010000	0.00438	TCT		0.398	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034		34	34	0	0	0	0.005524	0	34	34		
DNHD1	144132	broad.mit.edu	37	11	6591874	6591874	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:6591874G>C	ENST00000527990.2	+	40	13132	c.13132G>C	c.(13132-13134)Gag>Cag	p.E4378Q	DNHD1_ENST00000254579.6_Missense_Mutation_p.E4378Q			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4378					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAATGGCAGAGTGCAAGGC	0.617																																						uc001mdw.3		NaN																	0				ovary(2)	2						c.(13132-13134)GAG>CAG		dynein heavy chain domain 1 isoform 1							31.0	33.0	32.0					11																	6591874		2103	4220	6323	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6591874G>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13132G>C	11.37:g.6591874G>C	ENSP00000436180:p.Glu4378Gln					DNHD1_uc001mea.3_Missense_Mutation_p.E647Q|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.E646Q|DNHD1_uc010rao.1_Missense_Mutation_p.E636Q|DNHD1_uc009yfg.2_Missense_Mutation_p.E3Q	p.E4378Q	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13696	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4378					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13132G>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587513	0.86851	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08546	3.08;3.08	5.3	4.36	0.52297	Dynein heavy chain (1);	0.631105	0.15360	N	0.266474	T	0.10594	0.0259	L	0.40543	1.245	0.09310	N	1	B;B;B	0.28820	0.224;0.224;0.224	B;B;B	0.35688	0.135;0.135;0.208	T	0.21245	-1.0251	10	0.48119	T	0.1	-2.545	11.7258	0.51708	0.0:0.1782:0.8218:0.0	.	3466;430;4378	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	Q	4378;4378;646	ENSP00000254579:E4378Q;ENSP00000436180:E4378Q	ENSP00000254579:E4378Q	E	+	1	0	DNHD1	6548450	0.979000	0.34478	0.076000	0.20297	0.991000	0.79684	3.179000	0.50887	1.170000	0.42753	0.563000	0.77884	GAG		0.617	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666		2	7	0	0	0	0.004672	0	2	7		
EIF4G2	1982	broad.mit.edu	37	11	10821737	10821737	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:10821737G>C	ENST00000526148.1	-	18	2529	c.2019C>G	c.(2017-2019)ctC>ctG	p.L673L	EIF4G2_ENST00000525681.1_Silent_p.L673L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L635L|EIF4G2_ENST00000339995.5_Silent_p.L673L|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGTAGGAAGAGAGGAAAAT	0.413																																						uc001mjc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2017-2019)CTC>CTG		eukaryotic translation initiation factor 4							85.0	83.0	83.0					11																	10821737		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821737G>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2019C>G	11.37:g.10821737G>C						EIF4G2_uc001mjb.2_Silent_p.L467L|EIF4G2_uc009ygf.2_Silent_p.L467L|EIF4G2_uc001mjd.2_Silent_p.L635L	p.L673L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	18	2436	-			673						Silent	SNP	ENST00000526148.1	37	c.2019C>G	CCDS31428.1																																																																																				0.413	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		15	13	0	0	0	0.003163	0	15	13		
E2F8	79733	broad.mit.edu	37	11	19253898	19253898	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:19253898C>T	ENST00000527884.1	-	7	1181	c.949G>A	c.(949-951)Gat>Aat	p.D317N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.D317N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	317					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTAGCTATATCATACAACCTC	0.358																																						uc001mpm.2		NaN																	0				skin(1)	1						c.(949-951)GAT>AAT		E2F family member 8							128.0	133.0	132.0					11																	19253898		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19253898C>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.949G>A	11.37:g.19253898C>T	ENSP00000434199:p.Asp317Asn					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D317N	p.D317N	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			7	1471	-			317			Potential.		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.949G>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717587	0.96839	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.80653	-1.4;-1.4	6.06	6.06	0.98353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.105826	0.64402	D	0.000010	D	0.93190	0.7831	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94025	0.7296	10	0.87932	D	0	-21.2415	20.2159	0.98296	0.0:1.0:0.0:0.0	.	317	A0AVK6	E2F8_HUMAN	N	317	ENSP00000434199:D317N;ENSP00000250024:D317N	ENSP00000250024:D317N	D	-	1	0	E2F8	19210474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.882000	0.98803	0.655000	0.94253	GAT		0.358	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		30	61	0	0	0	0.003271	0	30	61		
PDHX	8050	broad.mit.edu	37	11	35006268	35006268	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:35006268C>G	ENST00000227868.4	+	9	1259	c.1175C>G	c.(1174-1176)tCt>tGt	p.S392C	PDHX_ENST00000448838.3_Missense_Mutation_p.S377C|PDHX_ENST00000477173.3_3'UTR|PDHX_ENST00000430469.2_Missense_Mutation_p.S165C			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	392					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATTGCTGACTCTGTAAAGGTA	0.358																																						uc001mvt.2		NaN																	0				kidney(1)	1						c.(1174-1176)TCT>TGT		pyruvate dehydrogenase complex, component X							123.0	123.0	123.0					11																	35006268		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:35006268C>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1175C>G	11.37:g.35006268C>G	ENSP00000227868:p.Ser392Cys					PDHX_uc010rep.1_Missense_Mutation_p.S377C|PDHX_uc010req.1_Missense_Mutation_p.S165C	p.S392C	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		9	1701	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	392					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.1175C>G	CCDS7896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.50|17.50	3.404227|3.404227	0.62288|0.62288	.|.	.|.	ENSG00000110435|ENSG00000110435	ENST00000526309|ENST00000448838;ENST00000227868;ENST00000430469	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.64|5.64	5.64|5.64	0.86602|0.86602	.|2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	.|0.352416	.|0.31809	.|N	.|0.007021	T|T	0.64170|0.64170	0.2574|0.2574	M|M	0.72894|0.72894	2.215|2.215	0.33741|0.33741	D|D	0.619459|0.619459	.|D;D;D	.|0.69078	.|0.97;0.992;0.997	.|P;D;D	.|0.65140	.|0.754;0.926;0.932	T|T	0.73842|0.73842	-0.3855|-0.3855	5|10	.|0.72032	.|D	.|0.01	-17.1127|-17.1127	18.7027|18.7027	0.91626|0.91626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|165;377;392	.|E9PBP7;E9PB14;O00330	.|.;.;ODPX_HUMAN	V|C	80|377;392;165	.|ENSP00000389404:S377C;ENSP00000227868:S392C;ENSP00000415695:S165C	.|ENSP00000227868:S392C	L|S	+|+	1|2	2|0	PDHX|PDHX	34962844|34962844	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.672000|0.672000	0.39443|0.39443	2.672000|2.672000	0.46850|0.46850	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.358	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1		NM_003477		51	111	0	0	0	0.01441	0	51	111		
LRP4	4038	broad.mit.edu	37	11	46914632	46914632	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:46914632G>A	ENST00000378623.1	-	13	1831	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	530					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGAGGTGCCTGAGTCGGTCCA	0.592																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1588-1590)TCA>TTA		low density lipoprotein receptor-related protein							53.0	47.0	49.0					11																	46914632		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46914632G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1589C>T	11.37:g.46914632G>A	ENSP00000367888:p.Ser530Leu						p.S530L	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	13	1735	-			530			Extracellular (Potential).|LDL-receptor class B 2.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1589C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574786	0.96553	.	.	ENSG00000134569	ENST00000378623	D	0.96011	-3.88	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97593	1.0118	10	0.59425	D	0.04	.	19.9017	0.96988	0.0:0.0:1.0:0.0	.	530	O75096	LRP4_HUMAN	L	530	ENSP00000367888:S530L	ENSP00000367888:S530L	S	-	2	0	LRP4	46871208	1.000000	0.71417	0.991000	0.47740	0.958000	0.62258	9.869000	0.99810	2.707000	0.92482	0.561000	0.74099	TCA		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		8	33	0	0	0	0.004007	0	8	33		
FNBP4	23360	broad.mit.edu	37	11	47754150	47754150	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:47754150C>T	ENST00000263773.5	-	11	1771	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	587						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTAGTTGTTCTGCTGCATCC	0.443																																						uc009ylv.2		NaN																	0				ovary(1)	1						c.(1759-1761)GAA>AAA		formin binding protein 4							262.0	255.0	257.0					11																	47754150		1986	4156	6142	SO:0001583	missense	23360							g.chr11:47754150C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1759G>A	11.37:g.47754150C>T	ENSP00000263773:p.Glu587Lys					FNBP4_uc001ngj.2_Missense_Mutation_p.E494K|FNBP4_uc001ngl.2_RNA	p.E587K	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			11	1912	-			587					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1759G>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770416	0.90108	.	.	ENSG00000109920	ENST00000263773	T	0.10860	2.83	5.66	5.66	0.87406	WW/Rsp5/WWP (1);	0.041683	0.85682	D	0.000000	T	0.09642	0.0237	L	0.27053	0.805	0.80722	D	1	P	0.45348	0.856	B	0.37650	0.255	T	0.23332	-1.0191	10	0.27082	T	0.32	-23.0402	19.7604	0.96314	0.0:1.0:0.0:0.0	.	587	Q8N3X1	FNBP4_HUMAN	K	587	ENSP00000263773:E587K	ENSP00000263773:E587K	E	-	1	0	FNBP4	47710726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.675000	0.91044	0.655000	0.94253	GAA		0.443	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				28	63	0	0	0	0.00632	0	28	63		
OR4C3	256144	broad.mit.edu	37	11	48346641	48346641	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:48346641G>C	ENST00000319856.4	+	1	170	c.149G>C	c.(148-150)aGa>aCa	p.R50T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGGTACAGAGAGTTCTCTTT	0.478																																						uc010rhv.1		NaN																	0				skin(1)	1						c.(148-150)AGA>ACA		olfactory receptor, family 4, subfamily C,							147.0	132.0	137.0					11																	48346641		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346641G>C	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.149G>C	11.37:g.48346641G>C	ENSP00000321419:p.Arg50Thr						p.R50T	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	149	+			23			Extracellular (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.149G>C	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365878	0.41902	.	.	ENSG00000176547	ENST00000319856	T	0.00421	7.46	5.88	3.77	0.43336	.	0.114883	0.39544	N	0.001327	T	0.00210	0.0006	N	0.11789	0.175	0.27829	N	0.941518	B	0.12013	0.005	B	0.14023	0.01	T	0.45101	-0.9284	10	0.66056	D	0.02	.	2.3432	0.04265	0.1142:0.1952:0.4883:0.2023	.	23	Q8NH37	OR4C3_HUMAN	T	50	ENSP00000321419:R50T	ENSP00000321419:R50T	R	+	2	0	OR4C3	48303217	0.000000	0.05858	0.745000	0.31077	0.897000	0.52465	-1.176000	0.03099	1.508000	0.48769	0.549000	0.68633	AGA		0.478	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1		NM_001004702		32	52	0	0	0	0.007835	0	32	52		
OR5M11	219487	broad.mit.edu	37	11	56310058	56310058	+	Missense_Mutation	SNP	G	G	A	rs376747453		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:56310058G>A	ENST00000528616.2	-	1	699	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GATTTGATCCGGAGGATGGCA	0.493																																						uc010rjl.1		NaN																	0					0						c.(676-678)CGG>TGG		olfactory receptor, family 5, subfamily M,		G	TRP/ARG	1,4075		0,1,2037	83.0	84.0	84.0		676	-3.3	0.0	11		84	0,8420		0,0,4210	no	missense	OR5M11	NM_001005245.1	101	0,1,6247	AA,AG,GG		0.0,0.0245,0.0080	probably-damaging	226/306	56310058	1,12495	2038	4210	6248	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310058G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.676C>T	11.37:g.56310058G>A	ENSP00000432417:p.Arg226Trp						p.R226W	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	676	-			226			Cytoplasmic (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.676C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520260	0.27211	2.45E-4	0.0	ENSG00000255223	ENST00000528616	T	0.00269	8.37	4.85	-3.32	0.04973	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.05289	-1.0894	9	0.87932	D	0	.	17.7785	0.88516	0.0:0.0:0.2051:0.7949	.	226	Q96RB7	OR5MB_HUMAN	W	226	ENSP00000432417:R226W	ENSP00000432417:R226W	R	-	1	2	OR5M11	56066634	0.000000	0.05858	0.010000	0.14722	0.082000	0.17680	0.065000	0.14466	-0.831000	0.04256	0.632000	0.83419	CGG		0.493	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1		NM_001005245		23	48	0	0	0	0.003954	0	23	48		
TMX2	51075	broad.mit.edu	37	11	57480128	57480128	+	Missense_Mutation	SNP	C	C	T	rs542858051		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:57480128C>T	ENST00000278422.4	+	1	50	c.38C>T	c.(37-39)tCg>tTg	p.S13L	TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.S13L|TMX2_ENST00000378312.4_Missense_Mutation_p.S13L|MED19_ENST00000431606.2_5'Flank|MED19_ENST00000337672.2_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	13					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTCGTGTATTCGGTGCCGCGA	0.622																																						uc001nlc.1		NaN																	0					0						c.(37-39)TCG>TTG		thioredoxin domain containing 14 isoform 1							87.0	70.0	76.0					11																	57480128		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57480128C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.38C>T	11.37:g.57480128C>T	ENSP00000278422:p.Ser13Leu					CTNND1_uc001nlf.1_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.2_5'Flank|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.S13L	p.S13L	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN			1	87	+			13					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.38C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632556	0.67015	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.44881	0.91	5.98	5.98	0.97165	.	0.247467	0.33916	U	0.004436	T	0.22627	0.0546	N	0.08118	0	0.37135	D	0.901437	P;P	0.39920	0.695;0.569	B;B	0.24394	0.053;0.042	T	0.15521	-1.0434	10	0.32370	T	0.25	-3.6329	20.0512	0.97629	0.0:1.0:0.0:0.0	.	13;13	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	L	13	ENSP00000367562:S13L	ENSP00000436274:S13L	S	+	2	0	TMX2	57236704	0.999000	0.42202	1.000000	0.80357	0.667000	0.39255	4.392000	0.59659	2.847000	0.97988	0.591000	0.81541	TCG		0.622	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1		NM_015959		10	31	0	0	0	0.003163	0	10	31		
VEGFB	7423	broad.mit.edu	37	11	64002948	64002948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:64002948G>A	ENST00000309422.2	+	2	375	c.79G>A	c.(79-81)Gat>Aat	p.D27N	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_Missense_Mutation_p.D27N|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	27					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	CTCCCAGCCTGATGCCCCTGG	0.562																																						uc001nyw.2		NaN																	0					0						c.(79-81)GAT>AAT		vascular endothelial growth factor B precursor							103.0	94.0	97.0					11																	64002948		2201	4297	6498	SO:0001583	missense	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64002948G>A	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.79G>A	11.37:g.64002948G>A	ENSP00000311127:p.Asp27Asn					VEGFB_uc001nyx.2_Missense_Mutation_p.D27N	p.D27N	NM_003377	NP_003368	P49765	VEGFB_HUMAN			2	119	+			27					Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	c.79G>A	CCDS8062.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.356691	0.82243	.	.	ENSG00000173511	ENST00000309422;ENST00000426086	.	.	.	4.33	4.33	0.51752	.	1.902250	0.02351	N	0.075866	T	0.45915	0.1366	N	0.24115	0.695	0.26917	N	0.966767	D;D	0.54207	0.965;0.963	P;P	0.50970	0.655;0.447	T	0.49153	-0.8969	9	0.49607	T	0.09	-3.9108	12.5091	0.55997	0.0:0.0:1.0:0.0	.	27;27	P49765-2;P49765	.;VEGFB_HUMAN	N	27	.	ENSP00000311127:D27N	D	+	1	0	VEGFB	63759524	0.728000	0.28080	0.699000	0.30290	0.531000	0.34715	4.024000	0.57218	2.399000	0.81585	0.556000	0.70494	GAT		0.562	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2		NM_003377		23	49	0	0	0	0.007291	0	23	49		
PYGM	5837	broad.mit.edu	37	11	64514251	64514251	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:64514251G>A	ENST00000164139.3	-	20	2807	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.I715I|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000377494.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	803					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATGTTCCGGATCACCATCC	0.607																																						uc001oax.3		NaN																	0				ovary(2)	2						c.(2407-2409)ATC>ATT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						123.0	114.0	117.0					11																	64514251		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514251G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2409C>T	11.37:g.64514251G>A						RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Silent_p.I715I	p.I803I	NM_005609	NP_005600	P11217	PYGM_HUMAN			20	3226	-			803					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.2409C>T	CCDS8079.1																																																																																				0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		41	58	0	0	0	0.01441	0	41	58		
FOSL1	8061	broad.mit.edu	37	11	65664326	65664326	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:65664326C>A	ENST00000312562.2	-	2	437	c.251G>T	c.(250-252)cGg>cTg	p.R84L	FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000532401.1_Missense_Mutation_p.R84L|FOSL1_ENST00000531493.1_Missense_Mutation_p.R84L	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	84					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CCCCAGGGCCCGGATGACTCC	0.647																																						uc001ogg.1		NaN																	0					0						c.(250-252)CGG>CTG		FOS-like antigen 1							38.0	45.0	42.0					11																	65664326		2201	4296	6497	SO:0001583	missense	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65664326C>A	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.251G>T	11.37:g.65664326C>A	ENSP00000310170:p.Arg84Leu					FOSL1_uc010ros.1_Intron	p.R84L	NM_005438	NP_005429	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	2	438	-			84					B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	c.251G>T	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191035	0.78789	.	.	ENSG00000175592	ENST00000455710;ENST00000312562;ENST00000531493;ENST00000532401	T	0.79141	-1.24	5.04	4.09	0.47781	.	0.054875	0.64402	D	0.000001	T	0.66187	0.2764	L	0.52573	1.65	0.58432	D	0.999993	P	0.44090	0.826	B	0.31812	0.136	T	0.67317	-0.5701	10	0.48119	T	0.1	-15.7965	10.2291	0.43245	0.0:0.8955:0.0:0.1045	.	84	P15407	FOSL1_HUMAN	L	84	ENSP00000310170:R84L	ENSP00000310170:R84L	R	-	2	0	FOSL1	65420902	0.849000	0.29639	0.964000	0.40570	0.928000	0.56348	1.647000	0.37260	1.189000	0.43028	0.655000	0.94253	CGG		0.647	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2		NM_005438		22	64	1	0	4.7796e-09	0.004656	5.04305e-09	22	64		
DPP3	10072	broad.mit.edu	37	11	66272178	66272178	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:66272178C>T	ENST00000360510.2	+	17	2039	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	DPP3_ENST00000541961.1_Silent_p.L658L|DPP3_ENST00000530165.1_Silent_p.L628L|DPP3_ENST00000453114.1_Silent_p.L658L|DPP3_ENST00000531863.1_Silent_p.L678L|DPP3_ENST00000532677.1_Silent_p.L677L			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	658					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCCTCACCCTCAGGGACACGG	0.597																																						uc001oig.1		NaN																	0				ovary(1)|skin(1)	2						c.(1972-1974)CTC>CTT		dipeptidyl peptidase III							119.0	104.0	109.0					11																	66272178		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272178C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1974C>T	11.37:g.66272178C>T						DPP3_uc001oif.1_Silent_p.L658L|DPP3_uc010rpe.1_Silent_p.L647L|DPP3_uc001oih.1_Missense_Mutation_p.S26L	p.L658L	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			17	2036	+			658					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1974C>T	CCDS8141.1																																																																																				0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2				24	91	0	0	0	0.00632	0	24	91		
CABP4	57010	broad.mit.edu	37	11	67223206	67223206	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67223206G>T	ENST00000325656.5	+	1	389	c.312G>T	c.(310-312)ctG>ctT	p.L104L	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	104					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGACTCCCTGCACGACGCTG	0.677																																						uc001olo.2		NaN																	0					0						c.(310-312)CTG>CTT		calcium binding protein 4							9.0	11.0	10.0					11																	67223206		2182	4273	6455	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223206G>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.312G>T	11.37:g.67223206G>T						CABP4_uc001oln.2_5'UTR	p.L104L	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	389	+			104					Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.312G>T	CCDS8166.1																																																																																				0.677	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2				3	22	1	0	2.56e-06	0.009096	2.65408e-06	3	22		
CABP2	51475	broad.mit.edu	37	11	67287568	67287568	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67287568G>C	ENST00000294288.4	-	5	512	c.443C>G	c.(442-444)aCg>aGg	p.T148R	CABP2_ENST00000353903.5_Missense_Mutation_p.T91R	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	148					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CATGTCTGCCGTCTCTGCCAG	0.657																																						uc001omc.1		NaN																	0				skin(1)	1						c.(442-444)ACG>AGG		calcium binding protein 2 isoform 1							104.0	78.0	87.0					11																	67287568		2200	4295	6495	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287568G>C	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.443C>G	11.37:g.67287568G>C	ENSP00000294288:p.Thr148Arg					CABP2_uc001omd.1_Missense_Mutation_p.T91R|CABP2_uc001ome.1_Missense_Mutation_p.T154R	p.T148R	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN			5	545	-			148						Missense_Mutation	SNP	ENST00000294288.4	37	c.443C>G	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157636	0.78114	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.72835	-0.41;-0.69	4.27	4.27	0.50696	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	L	0.51853	1.615	0.47778	D	0.999518	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.82692	-0.0331	10	0.87932	D	0	-9.6349	15.5329	0.75977	0.0:0.0:1.0:0.0	.	154;91;148	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	R	91;148	ENSP00000312037:T91R;ENSP00000294288:T148R	ENSP00000294288:T148R	T	-	2	0	CABP2	67044144	1.000000	0.71417	0.923000	0.36655	0.625000	0.37756	9.392000	0.97252	2.232000	0.73038	0.456000	0.33151	ACG		0.657	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1				16	68	0	0	0	0.010504	0	16	68		
ALDH3B1	221	broad.mit.edu	37	11	67789327	67789327	+	Missense_Mutation	SNP	G	G	A	rs200367510		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:67789327G>A	ENST00000539229.1	+	9	1047	c.931G>A	c.(931-933)Gat>Aat	p.D311N	RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.D311N|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.D275N|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	313					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CGATGAGAGCGATCGCTACAT	0.657																																						uc010rpy.1		NaN																	0					0						c.(937-939)GAT>AAT		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						40.0	44.0	43.0					11																	67789327		2199	4293	6492	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789327G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.931G>A	11.37:g.67789327G>A	ENSP00000474034:p.Asp311Asn					ALDH3B1_uc001omz.2_Missense_Mutation_p.D313N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D276N|ALDH3B1_uc001onb.2_RNA	p.D313N	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			9	1053	+			313					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.937G>A																																																																																					0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000694		44	46	0	0	0	0.01441	0	44	46		
FOLR3	2352	broad.mit.edu	37	11	71850770	71850770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:71850770G>C	ENST00000445078.2	+	5	824	c.753G>C	c.(751-753)caG>caC	p.Q251H	FOLR3_ENST00000442948.2_Missense_Mutation_p.Q210H|FOLR3_ENST00000456237.1_Missense_Mutation_p.Q253H			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	209					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GCTGCATCCAGATGTGGTTTG	0.577																																						uc001ory.1		NaN																	0					0						c.(757-759)CAG>CAC		SubName: Full=FOLR3 protein; Flags: Fragment;	Folic Acid(DB00158)						41.0	43.0	42.0					11																	71850770		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850770G>C	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.753G>C	11.37:g.71850770G>C	ENSP00000390338:p.Gln251His					FOLR3_uc001orx.1_Missense_Mutation_p.Q211H	p.Q253H			P41439	FOLR3_HUMAN			5	809	+			209					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.759G>C		.	.	.	.	.	.	.	.	.	.	N	18.79	3.698324	0.68386	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.78481	-1.18;-1.18;-1.18	2.94	2.94	0.34122	Folate receptor-like (1);	0.000000	0.64402	U	0.000012	D	0.85669	0.5750	.	.	.	0.58432	D	0.99999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.99	D	0.85951	0.1464	8	.	.	.	.	11.6457	0.51259	0.0:0.0:1.0:0.0	.	253;209	E9PGT2;P41439	.;FOLR3_HUMAN	H	251;253;210	ENSP00000390338:Q251H;ENSP00000399235:Q253H;ENSP00000411161:Q210H	.	Q	+	3	2	FOLR3	71528418	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.430000	0.59907	1.638000	0.50547	0.467000	0.42956	CAG		0.577	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1		NM_000804		11	51	0	0	0	0.010729	0	11	51		
ANKRD42	338699	broad.mit.edu	37	11	82938902	82938902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:82938902C>G	ENST00000393392.2	+	7	979	c.817C>G	c.(817-819)Cct>Gct	p.P273A	ANKRD42_ENST00000260047.6_Missense_Mutation_p.P300A|ANKRD42_ENST00000531895.1_Missense_Mutation_p.P301A|ANKRD42_ENST00000533342.1_Missense_Mutation_p.P301A	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	273					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGGATCAACTCCTATGCATAA	0.373																																						uc001ozz.1		NaN																	0				skin(1)	1						c.(817-819)CCT>GCT		ankyrin repeat domain 42							139.0	125.0	130.0					11																	82938902		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82938902C>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.817C>G	11.37:g.82938902C>G	ENSP00000377051:p.Pro273Ala					ANKRD42_uc010rsv.1_Missense_Mutation_p.P301A|ANKRD42_uc001paa.2_Missense_Mutation_p.P301A|ANKRD42_uc001pab.1_Missense_Mutation_p.P300A	p.P273A	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN			7	1239	+			273			ANK 8.		Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.817C>G	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050186	0.36181	.	.	ENSG00000137494	ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342;ENST00000342658;ENST00000531815	T;T;T;T;D	0.84298	-0.27;-0.27;-0.27;-0.27;-1.83	5.2	5.2	0.72013	Ankyrin repeat-containing domain (4);	0.828190	0.10808	N	0.631917	D	0.84727	0.5536	L	0.43152	1.355	0.38072	D	0.936405	P;P;P;B	0.43607	0.537;0.812;0.565;0.117	P;B;B;B	0.44647	0.456;0.44;0.23;0.098	T	0.82554	-0.0399	9	.	.	.	-0.0229	17.5056	0.87745	0.0:1.0:0.0:0.0	.	301;565;392;273	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	A	300;301;273;301;41;26	ENSP00000260047:P300A;ENSP00000434666:P301A;ENSP00000377051:P273A;ENSP00000435790:P301A;ENSP00000435197:P26A	.	P	+	1	0	ANKRD42	82616550	0.994000	0.37717	0.971000	0.41717	0.994000	0.84299	3.786000	0.55431	2.421000	0.82119	0.561000	0.74099	CCT		0.373	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1		NM_182603		35	101	0	0	0	0.009718	0	35	101		
CCDC83	220047	broad.mit.edu	37	11	85630484	85630484	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:85630484C>G	ENST00000342404.3	+	11	1389	c.1173C>G	c.(1171-1173)gtC>gtG	p.V391V	CCDC83_ENST00000280245.4_Silent_p.V422V|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Silent_p.V291V			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	391										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAATTCCAGTCAAACTCTATA	0.413																																						uc001pbh.1		NaN																	0				skin(1)	1						c.(1171-1173)GTC>GTG		coiled-coil domain containing 83							89.0	86.0	87.0					11																	85630484		2203	4299	6502	SO:0001819	synonymous_variant	220047							g.chr11:85630484C>G	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1173C>G	11.37:g.85630484C>G						CCDC83_uc001pbg.1_Silent_p.V422V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Silent_p.V291V	p.V391V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			11	1685	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	391					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Silent	SNP	ENST00000342404.3	37	c.1173C>G		.	.	.	.	.	.	.	.	.	.	C	2.746	-0.261026	0.05791	.	.	ENSG00000150676	ENST00000526729	.	.	.	5.62	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	7.8162	0.29260	0.0:0.6012:0.3093:0.0895	.	.	.	.	X	296	.	.	S	+	2	0	CCDC83	85308132	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	0.049000	0.14099	0.821000	0.34540	-0.181000	0.13052	TCA		0.413	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1		NM_173556		16	39	0	0	0	0.006122	0	16	39		
TYR	7299	broad.mit.edu	37	11	88924428	88924428	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:88924428C>T	ENST00000263321.5	+	2	1380	c.878C>T	c.(877-879)cCc>cTc	p.P293L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	293					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	AATGGAACGCCCGAGGGACCT	0.473																																						uc001pcs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(877-879)CCC>CTC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						138.0	128.0	131.0					11																	88924428		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924428C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.878C>T	11.37:g.88924428C>T	ENSP00000263321:p.Pro293Leu						p.P293L	NM_000372	NP_000363	P14679	TYRO_HUMAN			2	960	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	293			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.878C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716838	0.30413	.	.	ENSG00000077498	ENST00000263321	D	0.98192	-4.78	5.59	0.838	0.18902	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	1.448340	0.03692	N	0.247201	D	0.95367	0.8496	L	0.38175	1.15	0.09310	N	1	B	0.20164	0.042	B	0.21917	0.037	D	0.88342	0.2975	9	.	.	.	.	3.8551	0.08971	0.2768:0.3569:0.2888:0.0776	.	293	P14679	TYRO_HUMAN	L	293	ENSP00000263321:P293L	.	P	+	2	0	TYR	88564076	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-0.116000	0.10724	0.258000	0.21686	-0.169000	0.13324	CCC		0.473	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2		NM_000372		34	79	0	0	0	0.00623	0	34	79		
JRKL	8690	broad.mit.edu	37	11	96124929	96124929	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:96124929A>G	ENST00000332349.4	+	2	1363	c.1116A>G	c.(1114-1116)gcA>gcG	p.A372A	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Silent_p.A372A|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	372	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TAGCAATGGCATGGAACTTAG	0.408																																						uc009ywu.2		NaN																	0					0						c.(1114-1116)GCA>GCG		jerky homolog-like							132.0	130.0	131.0					11																	96124929		2201	4298	6499	SO:0001819	synonymous_variant	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96124929A>G	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1116A>G	11.37:g.96124929A>G						CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.A372A	p.A372A	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	2	1368	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	372			DDE.		A8K3G4|B2RAJ3|Q32MC2	Silent	SNP	ENST00000332349.4	37	c.1116A>G	CCDS8308.1																																																																																				0.408	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2		NM_003772		3	134	0	0	0	0.000602	0	3	134		
PDGFD	80310	broad.mit.edu	37	11	104034599	104034599	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:104034599C>T	ENST00000393158.2	-	1	236	c.57G>A	c.(55-57)cgG>cgA	p.R19R	PDGFD_ENST00000302251.5_Silent_p.R19R			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	19					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGAAGTGTCCCGACAGCTGC	0.488											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001phq.2		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(55-57)CGG>CGA		platelet derived growth factor D isoform 1							66.0	66.0	66.0					11																	104034599		2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034599C>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.57G>A	11.37:g.104034599C>T			OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_uc001php.2_Silent_p.R19R	p.R19R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	429	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	19					A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.57G>A	CCDS41703.1																																																																																				0.488	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2		NM_025208		5	34	0	0	0	0.001984	0	5	34		
KBTBD3	143879	broad.mit.edu	37	11	105924026	105924026	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:105924026C>G	ENST00000526793.1	-	3	1549	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	KBTBD3_ENST00000534815.1_Missense_Mutation_p.E385Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.E464Q	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	460										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCTGTAATCTCTACCTCTGAT	0.373																																						uc001pja.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1390-1392)GAG>CAG		BTB and kelch domain containing 3							56.0	54.0	55.0					11																	105924026		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924026C>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1390G>C	11.37:g.105924026C>G	ENSP00000436262:p.Glu464Gln					KBTBD3_uc001pjb.2_Missense_Mutation_p.E464Q|KBTBD3_uc009yxm.2_Missense_Mutation_p.E385Q	p.E464Q	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2030	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	460			Kelch 4.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1390G>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707646	0.68615	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.67698	-0.17;-0.28;-0.28	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.74041	-0.3792	10	0.49607	T	0.09	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	464;460	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Q	385;464;464	ENSP00000431910:E385Q;ENSP00000436262:E464Q;ENSP00000432163:E464Q	ENSP00000436262:E464Q	E	-	1	0	KBTBD3	105429236	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.835000	0.97688	0.591000	0.81541	GAG		0.373	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2		NM_152433		25	28	0	0	0	0.00632	0	25	28		
ATM	472	broad.mit.edu	37	11	108236064	108236064	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236064G>C	ENST00000452508.2	+	64	9189	c.9000G>C	c.(8998-9000)caG>caC	p.Q3000H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.Q3000H|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3000					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATATTGACCAGAGTTTCAACA	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8998-9000)CAG>CAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							116.0	113.0	114.0					11																	108236064		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236064G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9000G>C	11.37:g.108236064G>C	ENSP00000388058:p.Gln3000His	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.Q3000H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Q1652H	p.Q3000H	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9385	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3000					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.9000G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188563	0.57909	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01538	4.79;4.79	5.22	1.23	0.21249	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.188555	0.47852	D	0.000208	T	0.05777	0.0151	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.17745	-1.0359	10	0.59425	D	0.04	.	8.2146	0.31503	0.1277:0.2414:0.6309:0.0	.	3000	Q13315	ATM_HUMAN	H	3000	ENSP00000278616:Q3000H;ENSP00000388058:Q3000H	ENSP00000278616:Q3000H	Q	+	3	2	ATM	107741274	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.649000	0.46656	0.080000	0.16959	0.650000	0.86243	CAG		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		15	60	0	0	0	0.014323	0	15	60		
ATM	472	broad.mit.edu	37	11	108236083	108236083	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236083G>A	ENST00000452508.2	+	64	9208	c.9019G>A	c.(9019-9021)Gaa>Aaa	p.E3007K	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.E3007K|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3007					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAAAGTAGCTGAACGTGTCTT	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CM980162	ATM	M		c.(9019-9021)GAA>AAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							125.0	122.0	123.0					11																	108236083		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236083G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9019G>A	11.37:g.108236083G>A	ENSP00000388058:p.Glu3007Lys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E3007K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1659K	p.E3007K	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9404	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3007					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.9019G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881574	0.91740	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01572	4.76;4.76	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.123947	0.64402	D	0.000016	T	0.08714	0.0216	M	0.62016	1.91	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.12656	-1.0539	10	0.38643	T	0.18	.	19.0354	0.92974	0.0:0.0:1.0:0.0	.	3007	Q13315	ATM_HUMAN	K	3007	ENSP00000278616:E3007K;ENSP00000388058:E3007K	ENSP00000278616:E3007K	E	+	1	0	ATM	107741293	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.405000	0.97313	2.726000	0.93360	0.650000	0.86243	GAA		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		17	65	0	0	0	0.007291	0	17	65		
ATM	472	broad.mit.edu	37	11	108236128	108236128	+	Nonsense_Mutation	SNP	G	G	T	rs56253573		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236128G>T	ENST00000452508.2	+	64	9253	c.9064G>T	c.(9064-9066)Gaa>Taa	p.E3022*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Nonsense_Mutation_p.E3022*|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3022					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGGAGTGGAAGAAGGCACTGT	0.433			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240	GRCh37	CI030356	ATM	I		c.(9064-9066)GAA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							143.0	138.0	140.0					11																	108236128		2201	4298	6499	SO:0001587	stop_gained	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236128G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9064G>T	11.37:g.108236128G>T	ENSP00000388058:p.Glu3022*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.E3022*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1674*	p.E3022*	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9449	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3022					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.9064G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	51	17.549887	0.99888	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.09	5.09	0.68999	.	0.050796	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	.	.	.	X	3022	.	ENSP00000278616:E3022X	E	+	1	0	ATM	107741338	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	9.405000	0.97313	2.657000	0.90304	0.558000	0.71614	GAA		0.433	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		17	59	1	0	3.01185e-09	0.003954	3.18412e-09	17	59		
ATM	472	broad.mit.edu	37	11	108236160	108236160	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:108236160G>A	ENST00000452508.2	+	64	9285	c.9096G>A	c.(9094-9096)gtG>gtA	p.V3032V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Silent_p.V3032V|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3032	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTGGACAAGTGAATTTGCTCA	0.443			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(9094-9096)GTG>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							142.0	136.0	138.0					11																	108236160		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236160G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9096G>A	11.37:g.108236160G>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.V3032V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.V1684V	p.V3032V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9481	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	3032			FATC.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.9096G>A	CCDS31669.1																																																																																				0.443	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		12	41	0	0	0	0.00499	0	12	41		
ARHGAP20	57569	broad.mit.edu	37	11	110582892	110582892	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:110582892C>T	ENST00000260283.4	-	2	347	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ARHGAP20_ENST00000528829.1_Intron|ARHGAP20_ENST00000527598.1_Intron|ARHGAP20_ENST00000524756.1_5'Flank|ARHGAP20_ENST00000533353.1_Intron	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	21					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACACTCCTGTCAGGGAAGAGG	0.672																																						uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(61-63)CTG>CTA		Rho GTPase activating protein 20							7.0	9.0	8.0					11																	110582892		2169	4261	6430	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110582892C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.63G>A	11.37:g.110582892C>T						ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	p.L21L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	2	348	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	21					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.63G>A	CCDS31673.1																																																																																				0.672	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		7	13	0	0	0	0.006214	0	7	13		
ZW10	9183	broad.mit.edu	37	11	113608339	113608339	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:113608339G>C	ENST00000200135.3	-	14	2115	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	657					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTGCTGTATTGAGTAAAGTCC	0.433																																						uc001poe.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1969-1971)CTC>CTG		centromere/kinetochore protein zw10							156.0	145.0	149.0					11																	113608339		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113608339G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1971C>G	11.37:g.113608339G>C						ZW10_uc009yyv.2_RNA	p.L657L	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	14	2008	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	657					A1A528	Silent	SNP	ENST00000200135.3	37	c.1971C>G	CCDS8363.1																																																																																				0.433	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1		NM_004724		38	92	0	0	0	0.01441	0	38	92		
DSCAML1	57453	broad.mit.edu	37	11	117306394	117306394	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:117306394C>T	ENST00000321322.6	-	27	5023	c.5022G>A	c.(5020-5022)aaG>aaA	p.K1674K	DSCAML1_ENST00000527706.1_Silent_p.K1404K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1614					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTTCCTCTTCTTGCGTACGA	0.597																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5020-5022)AAG>AAA		Down syndrome cell adhesion molecule like 1							108.0	89.0	96.0					11																	117306394		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117306394C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5022G>A	11.37:g.117306394C>T							p.K1674K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	27	5024	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1614			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5022G>A	CCDS8384.1																																																																																				0.597	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		21	54	0	0	0	0.003954	0	21	54		
GRAMD1B	57476	broad.mit.edu	37	11	123448178	123448178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:123448178G>C	ENST00000529750.1	+	2	454	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.E43Q|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.E43Q	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	43						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACCATGGTGGAGAAGGGCTC	0.677											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pyx.2		NaN																	0				ovary(1)	1						c.(127-129)GAG>CAG		GRAM domain containing 1B							22.0	28.0	26.0					11																	123448178		2113	4226	6339	SO:0001583	missense	57476					integral to membrane		g.chr11:123448178G>C	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.127G>C	11.37:g.123448178G>C	ENSP00000436500:p.Glu43Gln		OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1526	GRAMD1B_uc001pyw.2_Missense_Mutation_p.E43Q|GRAMD1B_uc010rzw.1_Missense_Mutation_p.E3Q|GRAMD1B_uc010rzx.1_Missense_Mutation_p.E3Q|GRAMD1B_uc009zbe.1_Missense_Mutation_p.E39Q	p.E43Q	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	2	456	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	43					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.127G>C	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090404	0.94149	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.35421	1.77;1.8;1.8;1.31;1.33	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.29908	0.895	0.58432	D	0.99999	D;D;D;D	0.89917	0.998;1.0;0.997;1.0	D;D;P;D	0.80764	0.991;0.994;0.879;0.982	T	0.33675	-0.9859	10	0.23891	T	0.37	.	18.1148	0.89549	0.0:0.0:1.0:0.0	.	3;43;43;43	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Q	43;43;43;43;3;39	ENSP00000402457:E43Q;ENSP00000325628:E43Q;ENSP00000436500:E43Q;ENSP00000432987:E3Q;ENSP00000434214:E39Q	ENSP00000325628:E43Q	E	+	1	0	GRAMD1B	122953388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.394000	0.97261	2.275000	0.75901	0.462000	0.41574	GAG		0.677	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2		XM_370660		5	6	0	0	0	0.001168	0	5	6		
MSANTD2	79684	broad.mit.edu	37	11	124637361	124637361	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:124637361T>C	ENST00000374979.3	-	4	1399	c.1391A>G	c.(1390-1392)cAg>cGg	p.Q464R	MSANTD2_ENST00000239614.4_Missense_Mutation_p.Q412R|MSANTD2_ENST00000526629.1_Missense_Mutation_p.Q234R|RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	464																	TATTTCCACCTGTAATGAGGC	0.498																																						uc001qba.1		NaN																	0					0						c.(1390-1392)CAG>CGG		hypothetical protein LOC79684							112.0	120.0	118.0					11																	124637361		2201	4299	6500	SO:0001583	missense	79684							g.chr11:124637361T>C	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1391A>G	11.37:g.124637361T>C	ENSP00000364118:p.Gln464Arg					C11orf61_uc001qaz.1_Missense_Mutation_p.Q412R|C11orf61_uc010sap.1_Missense_Mutation_p.Q184R|C11orf61_uc001qay.1_Missense_Mutation_p.Q234R	p.Q464R	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)	4	1414	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	464					B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.1391A>G		.	.	.	.	.	.	.	.	.	.	T	8.624	0.892090	0.17613	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.41	5.41	0.78517	.	0.153570	0.44285	D	0.000467	T	0.30198	0.0757	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14755	-1.0461	9	0.23302	T	0.38	-10.5558	10.2654	0.43452	0.0:0.0826:0.0:0.9174	.	464;412	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	R	412;464;234	.	ENSP00000239614:Q412R	Q	-	2	0	C11orf61	124142571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.110000	0.41873	2.265000	0.75225	0.482000	0.46254	CAG		0.498	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1		NM_024631		3	134	0	0	0	0.004672	0	3	134		
CDON	50937	broad.mit.edu	37	11	125859579	125859579	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:125859579T>G	ENST00000392693.3	-	15	2853	c.2726A>C	c.(2725-2727)gAa>gCa	p.E909A	CDON_ENST00000263577.7_Missense_Mutation_p.E909A|CDON_ENST00000531738.1_Missense_Mutation_p.E286A	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	909	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTCCTCCTTCATTGAAGCA	0.403																																						uc009zbw.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(2725-2727)GAA>GCA		surface glycoprotein, Ig superfamily member							181.0	158.0	166.0					11																	125859579		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125859579T>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2726A>C	11.37:g.125859579T>G	ENSP00000376458:p.Glu909Ala					CDON_uc001qdb.3_Missense_Mutation_p.E286A|CDON_uc001qdc.3_Missense_Mutation_p.E909A	p.E909A	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	15	2854	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	909			Extracellular (Potential).|Fibronectin type-III 3.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2726A>C	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270205	0.59540	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.56275	0.47;0.47;0.47	5.81	5.81	0.92471	Fibronectin, type III (4);	0.243627	0.28583	N	0.014824	T	0.46521	0.1397	N	0.16743	0.435	0.46376	D	0.999012	B;B;B	0.24618	0.107;0.087;0.038	B;B;B	0.37508	0.252;0.163;0.07	T	0.46952	-0.9154	10	0.51188	T	0.08	-16.1075	16.2213	0.82258	0.0:0.0:0.0:1.0	.	909;909;286	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	A	909;286;909	ENSP00000376458:E909A;ENSP00000432901:E286A;ENSP00000263577:E909A	ENSP00000263577:E909A	E	-	2	0	CDON	125364789	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.949000	0.70257	2.219000	0.72066	0.529000	0.55759	GAA		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952		5	110	0	0	0	0.001168	0	5	110		
ARHGAP32	9743	broad.mit.edu	37	11	128839034	128839034	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:128839034C>A	ENST00000310343.9	-	22	6031	c.6032G>T	c.(6031-6033)gGc>gTc	p.G2011V	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1662V|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1662V|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2011	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGGCGCTTGCCGTGTGGTTG	0.572																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(6031-6033)GGC>GTC		Rho GTPase-activating protein isoform 1							124.0	105.0	111.0					11																	128839034		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839034C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6032G>T	11.37:g.128839034C>A	ENSP00000310561:p.Gly2011Val					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G970V|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1662V	p.G2011V	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	6032	-			2011			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6032G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415663	0.42817	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.15017	2.46;2.46;2.46	5.72	4.8	0.61643	.	0.250540	0.34802	N	0.003667	T	0.26011	0.0634	L	0.59436	1.845	0.54753	D	0.99998	P	0.52577	0.954	P	0.49637	0.617	T	0.01657	-1.1302	10	0.59425	D	0.04	.	11.802	0.52133	0.1383:0.7287:0.1329:0.0	.	2011	A7KAX9	RHG32_HUMAN	V	2011;1662;1662	ENSP00000310561:G2011V;ENSP00000376425:G1662V;ENSP00000432862:G1662V	ENSP00000310561:G2011V	G	-	2	0	ARHGAP32	128344244	0.999000	0.42202	0.892000	0.35008	0.808000	0.45660	3.708000	0.54845	1.415000	0.47037	-0.152000	0.13540	GGC		0.572	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		19	55	1	0	6.44725e-10	0.014323	6.8566e-10	19	55		
IGSF9B	22997	broad.mit.edu	37	11	133816031	133816031	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr11:133816031A>T	ENST00000321016.8	-	2	417	c.187T>A	c.(187-189)Ttc>Atc	p.F63I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.F63I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	63	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGAACTTGAACCACTCTACG	0.612																																						uc001qgx.3		NaN																	0					0						c.(187-189)TTC>ATC		immunoglobulin superfamily, member 9B							52.0	63.0	59.0					11																	133816031		2124	4216	6340	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133816031A>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.187T>A	11.37:g.133816031A>T	ENSP00000317980:p.Phe63Ile					IGSF9B_uc001qgz.2_RNA	p.F63I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	2	418	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	63			Extracellular (Potential).|Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.187T>A		.	.	.	.	.	.	.	.	.	.	A	16.92	3.254534	0.59212	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.63129	0.2485	L	0.33753	1.03	0.58432	D	0.999992	B	0.22983	0.078	B	0.37304	0.246	T	0.58891	-0.7556	10	0.28530	T	0.3	.	15.5994	0.76613	1.0:0.0:0.0:0.0	.	63	Q9UPX0	TUTLB_HUMAN	I	63;63;53;110	ENSP00000317980:F63I;ENSP00000436576:F63I;ENSP00000434026:F53I;ENSP00000435989:F110I	ENSP00000317980:F63I	F	-	1	0	IGSF9B	133321241	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.217000	0.95160	2.175000	0.68902	0.533000	0.62120	TTC		0.612	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		13	21	0	0	0	0.00245	0	13	21		
CACNA1C	775	broad.mit.edu	37	12	2788756	2788756	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:2788756G>A	ENST00000347598.4	+	44	5382	c.5382G>A	c.(5380-5382)gaG>gaA	p.E1794E	CACNA1C_ENST00000335762.5_Silent_p.E1771E|CACNA1C_ENST00000399638.1_Silent_p.E1774E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.E1765E|CACNA1C_ENST00000399606.1_Silent_p.E1766E|CACNA1C_ENST00000399649.1_Silent_p.E1752E|CACNA1C_ENST00000406454.3_Silent_p.E1746E|CACNA1C_ENST00000399637.1_Silent_p.E1765E|CACNA1C_ENST00000399595.1_Silent_p.E1754E|CACNA1C_ENST00000402845.3_Silent_p.E1765E|CACNA1C_ENST00000399597.1_Silent_p.E1746E|CACNA1C_ENST00000399617.1_Silent_p.E1746E|CACNA1C_ENST00000399601.1_Silent_p.E1746E|CACNA1C_ENST00000399644.1_Silent_p.E1746E|CACNA1C_ENST00000327702.7_Silent_p.E1746E|CACNA1C_ENST00000344100.3_Silent_p.E1787E|CACNA1C_ENST00000399655.1_Silent_p.E1746E|CACNA1C_ENST00000399603.1_Silent_p.E1746E|CACNA1C_ENST00000399591.1_Silent_p.E1754E|CACNA1C_ENST00000399641.1_Silent_p.E1746E|CACNA1C_ENST00000399629.1_Silent_p.E1763E|CACNA1C_ENST00000399634.1_Silent_p.E1746E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1794					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCCCACGAGAAGCTGGTGG	0.657																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(5380-5382)GAG>GAA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						66.0	80.0	75.0					12																	2788756		2170	4262	6432	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2788756G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5382G>A	12.37:g.2788756G>A						CACNA1C_uc009zdv.1_Silent_p.E1743E|CACNA1C_uc001qkb.2_Silent_p.E1746E|CACNA1C_uc001qkc.2_Silent_p.E1765E|CACNA1C_uc001qke.2_Silent_p.E1735E|CACNA1C_uc001qkf.2_Silent_p.E1754E|CACNA1C_uc001qjz.2_Silent_p.E1746E|CACNA1C_uc001qkd.2_Silent_p.E1765E|CACNA1C_uc001qkg.2_Silent_p.E1752E|CACNA1C_uc009zdw.1_Silent_p.E1787E|CACNA1C_uc001qkh.2_Silent_p.E1754E|CACNA1C_uc001qkl.2_Silent_p.E1794E|CACNA1C_uc001qkn.2_Silent_p.E1746E|CACNA1C_uc001qko.2_Silent_p.E1766E|CACNA1C_uc001qkp.2_Silent_p.E1746E|CACNA1C_uc001qkr.2_Silent_p.E1763E|CACNA1C_uc001qku.2_Silent_p.E1746E|CACNA1C_uc001qkq.2_Silent_p.E1774E|CACNA1C_uc001qks.2_Silent_p.E1746E|CACNA1C_uc001qkt.2_Silent_p.E1765E|CACNA1C_uc001qki.1_Silent_p.E1482E|CACNA1C_uc001qkj.1_Silent_p.E1482E|CACNA1C_uc001qkk.1_Silent_p.E1482E|CACNA1C_uc001qkm.1_Silent_p.E1471E|CACNA1C_uc010sea.1_Silent_p.E437E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E64E	p.E1794E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	44	5695	+			1794			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.5382G>A	CCDS44788.1																																																																																				0.657	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		11	24	0	0	0	0.013537	0	11	24		
CLEC4C	170482	broad.mit.edu	37	12	7883463	7883463	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:7883463C>T	ENST00000542353.1	-	6	917	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	CLEC4C_ENST00000360345.3_Missense_Mutation_p.G143R|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G112R|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G112R	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	143	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTGACAGCCCCAGAAAATAA	0.448																																						uc001qtg.1		NaN																	0				ovary(2)|skin(1)	3						c.(427-429)GGG>AGG		C-type lectin domain family 4, member C isoform							97.0	96.0	96.0					12																	7883463		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7883463C>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.427G>A	12.37:g.7883463C>T	ENSP00000440428:p.Gly143Arg					CLEC4C_uc001qth.1_Missense_Mutation_p.G143R|CLEC4C_uc001qti.1_Missense_Mutation_p.G112R	p.G143R	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	5	601	-			143			Extracellular (Potential).|C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.427G>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379166	0.61735	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	1.88	1.88	0.25563	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	D	0.87386	0.6164	H	0.99090	4.425	0.27478	N	0.952661	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76239	-0.3032	9	0.87932	D	0	.	7.2545	0.26168	0.0:1.0:0.0:0.0	.	112;143	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	R	143;112;112;143;65;103	ENSP00000440428:G143R;ENSP00000346648:G112R;ENSP00000445338:G112R;ENSP00000353500:G143R;ENSP00000438649:G65R;ENSP00000442457:G103R	ENSP00000346648:G112R	G	-	1	0	CLEC4C	7774730	0.332000	0.24722	0.837000	0.33122	0.505000	0.33919	2.021000	0.41020	1.365000	0.46057	0.561000	0.74099	GGG		0.448	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1		NM_203503		33	76	0	0	0	0.005524	0	33	76		
SLCO1C1	53919	broad.mit.edu	37	12	20874807	20874807	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:20874807G>T	ENST00000266509.2	+	8	1213	c.845G>T	c.(844-846)gGa>gTa	p.G282V	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G282V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G164V|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G282V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G233V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	282					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTAATAGCAGGAATCATAAGT	0.438																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(844-846)GGA>GTA		solute carrier organic anion transporter family,							80.0	79.0	80.0					12																	20874807		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874807G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.845G>T	12.37:g.20874807G>T	ENSP00000266509:p.Gly282Val					SLCO1C1_uc010sii.1_Missense_Mutation_p.G282V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G233V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G116V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G282V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G164V	p.G282V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1200	+	Esophageal squamous(101;0.149)		282			Helical; Name=6; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.845G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104877	0.77096	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.90082	3.085	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.989;0.942	D;D;D;D	0.91635	0.996;0.999;0.967;0.976	T	0.81482	-0.0913	10	0.87932	D	0	.	18.0443	0.89327	0.0:0.0:1.0:0.0	.	164;233;282;282	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	V	282;233;282;282;164	ENSP00000444149:G282V;ENSP00000438665:G233V;ENSP00000266509:G282V;ENSP00000370964:G282V;ENSP00000444527:G164V	ENSP00000266509:G282V	G	+	2	0	SLCO1C1	20766074	1.000000	0.71417	0.968000	0.41197	0.905000	0.53344	9.169000	0.94788	2.555000	0.86185	0.467000	0.42956	GGA		0.438	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435		19	31	1	0	8.34094e-07	0.008871	8.69794e-07	19	31		
SLCO1B1	10599	broad.mit.edu	37	12	21355522	21355522	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:21355522A>G	ENST00000256958.2	+	10	1329	c.1233A>G	c.(1231-1233)tcA>tcG	p.S411S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	411					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CCAAATTCTCATGTTTTACTG	0.343																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1231-1233)TCA>TCG		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						87.0	82.0	83.0					12																	21355522		2203	4296	6499	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355522A>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1233A>G	12.37:g.21355522A>G							p.S411S	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			10	1337	+			411			Helical; Name=9; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1233A>G	CCDS8685.1																																																																																				0.343	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		16	23	0	0	0	0.004007	0	16	23		
METTL20	254013	broad.mit.edu	37	12	31820829	31820829	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:31820829C>T	ENST00000357721.3	+	4	909	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	METTL20_ENST00000538463.1_Missense_Mutation_p.H232Y|METTL20_ENST00000395763.3_Missense_Mutation_p.H232Y|METTL20_ENST00000412352.2_Missense_Mutation_p.H232Y|METTL20_ENST00000538391.1_3'UTR	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	232						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						CATTCAGCATCACCTGCACAA	0.488																																						uc009zjr.2		NaN																	0					0						c.(694-696)CAC>TAC		hypothetical protein LOC254013							110.0	107.0	108.0					12																	31820829		2203	4300	6503	SO:0001583	missense	254013					cytoplasm	protein methyltransferase activity	g.chr12:31820829C>T	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.694C>T	12.37:g.31820829C>T	ENSP00000350353:p.His232Tyr					C12orf72_uc001rkl.2_Missense_Mutation_p.H232Y|C12orf72_uc001rkm.2_Missense_Mutation_p.H232Y	p.H232Y	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN			4	903	+			232					D3DUW3	Missense_Mutation	SNP	ENST00000357721.3	37	c.694C>T	CCDS8724.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.020686	0.00418	.	.	ENSG00000139160	ENST00000412352;ENST00000395763;ENST00000538463;ENST00000357721	.	.	.	5.5	4.61	0.57282	.	0.529195	0.21187	N	0.078714	T	0.31167	0.0788	L	0.36672	1.1	0.09310	N	0.999998	B	0.30439	0.279	B	0.27608	0.081	T	0.14254	-1.0479	9	0.26408	T	0.33	-5.2252	11.1771	0.48606	0.0:0.8032:0.1277:0.0691	.	232	Q8IXQ9	MET20_HUMAN	Y	232	.	ENSP00000350353:H232Y	H	+	1	0	METTL20	31712096	0.247000	0.23920	0.099000	0.21106	0.293000	0.27360	1.920000	0.40025	1.483000	0.48342	-0.119000	0.15052	CAC		0.488	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1		NM_173802		30	59	0	0	0	0.006999	0	30	59		
LMBR1L	55716	broad.mit.edu	37	12	49498238	49498238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:49498238G>A	ENST00000267102.8	-	5	770	c.428C>T	c.(427-429)tCc>tTc	p.S143F	LMBR1L_ENST00000547382.1_Missense_Mutation_p.S143F|LMBR1L_ENST00000395141.4_Missense_Mutation_p.S138F|LMBR1L_ENST00000553204.1_Intron	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	143					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TACCTTTCTGGAGCCAGCAAA	0.458																																						uc001rth.3		NaN																	0				pancreas(1)	1						c.(427-429)TCC>TTC		lipocalin-interacting membrane receptor							131.0	134.0	133.0					12																	49498238		2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49498238G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.428C>T	12.37:g.49498238G>A	ENSP00000267102:p.Ser143Phe					LMBR1L_uc001rtg.3_Missense_Mutation_p.S138F|LMBR1L_uc001rti.3_Missense_Mutation_p.S143F|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_Missense_Mutation_p.S16F|LMBR1L_uc010smf.1_RNA	p.S143F	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			5	770	-			143			Cytoplasmic (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.428C>T	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546393	0.86022	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.34667	1.35;1.35;1.35	6.07	6.07	0.98685	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;0.999;1.0	D;D;D;D	0.87578	0.991;0.994;0.998;0.998	T	0.42548	-0.9445	10	0.09590	T	0.72	.	19.4154	0.94694	0.0:0.0:1.0:0.0	.	141;143;143;138	Q6UX01-2;Q6UX01-3;Q6UX01;Q6UX01-4	.;.;LMBRL_HUMAN;.	F	143;143;138	ENSP00000267102:S143F;ENSP00000447329:S143F;ENSP00000378573:S138F	ENSP00000267102:S143F	S	-	2	0	LMBR1L	47784505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.824000	0.99380	2.884000	0.98904	0.655000	0.94253	TCC		0.458	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1		NM_018113		54	132	0	0	0	0.01441	0	54	132		
BCDIN3D	144233	broad.mit.edu	37	12	50232586	50232586	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:50232586G>A	ENST00000333924.4	-	2	488	c.447C>T	c.(445-447)ttC>ttT	p.F149F	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	149	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						ATTGGCTTAAGAAAGAGCTCA	0.443											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvh.2		NaN																	0				ovary(1)	1						c.(445-447)TTC>TTT		BCDIN3 domain containing							88.0	87.0	87.0					12																	50232586		2203	4300	6503	SO:0001819	synonymous_variant	144233						methyltransferase activity	g.chr12:50232586G>A		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.447C>T	12.37:g.50232586G>A			OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	p.F149F	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN			2	489	-			149			Bin3-type SAM.		A8K829	Silent	SNP	ENST00000333924.4	37	c.447C>T	CCDS8790.1																																																																																				0.443	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1		NM_181708		21	47	0	0	0	0.003954	0	21	47		
GRASP	160622	broad.mit.edu	37	12	52403023	52403023	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:52403023G>A	ENST00000293662.4	+	2	376	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	GRASP_ENST00000380039.2_5'Flank|GRASP_ENST00000552049.1_5'Flank|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	99					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GAACAGCAGCGGTGAGTCACC	0.597																																						uc001rzo.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(295-297)CGG>CAG		GRP1 (general receptor for phosphoinositides							92.0	85.0	88.0					12																	52403023		2203	4300	6503	SO:0001630	splice_region_variant	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52403023G>A	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.296+1G>A	12.37:g.52403023G>A						GRASP_uc001rzp.1_5'Flank	p.R99Q	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	2	352	+			99					Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.296G>A	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089538	0.94149	.	.	ENSG00000161835	ENST00000293662	T	0.17054	2.3	5.01	5.01	0.66863	PDZ/DHR/GLGF (1);	0.056719	0.64402	D	0.000002	T	0.24851	0.0603	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.01424	-1.1358	10	0.28530	T	0.3	-2.1292	13.6662	0.62396	0.0:0.0:1.0:0.0	.	99	Q7Z6J2	GRASP_HUMAN	Q	99	ENSP00000293662:R99Q	ENSP00000293662:R99Q	R	+	2	0	GRASP	50689290	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.401000	0.52601	2.601000	0.87937	0.411000	0.27672	CGG		0.597	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			Missense_Mutation	37	75	0	0	0	0.00623	0	37	75		
KRT2	3849	broad.mit.edu	37	12	53045825	53045825	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:53045825C>G	ENST00000309680.3	-	1	123	c.102G>C	c.(100-102)cgG>cgC	p.R34R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	34	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AAGTTGATCTCCGGCTTCCAC	0.602																																						uc001sat.2		NaN																	0				ovary(2)	2						c.(100-102)CGG>CGC		keratin 2							37.0	40.0	39.0					12																	53045825		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045825C>G		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.102G>C	12.37:g.53045825C>G							p.R34R	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	135	-			34			Head.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.102G>C	CCDS8835.1																																																																																				0.602	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		10	20	0	0	0	0.00245	0	10	20		
RARG	5916	broad.mit.edu	37	12	53621231	53621231	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:53621231G>A	ENST00000425354.2	-	3	586	c.99C>T	c.(97-99)ctC>ctT	p.L33L	RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Silent_p.L33L|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	33	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAGACCCCCTGAGTGCCCCTG	0.647																																						uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(97-99)CTC>CTT		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						40.0	43.0	42.0					12																	53621231		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53621231G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.99C>T	12.37:g.53621231G>A						RARG_uc001scf.2_Silent_p.L33L|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron	p.L33L	NM_000966	NP_000957	P13631	RARG_HUMAN			3	584	-			33			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.99C>T	CCDS8850.1																																																																																				0.647	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		6	14	0	0	0	0.001984	0	6	14		
STAC3	246329	broad.mit.edu	37	12	57637672	57637672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:57637672C>A	ENST00000332782.2	-	12	1219	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	STAC3_ENST00000554578.1_Nonsense_Mutation_p.E301*|STAC3_ENST00000546246.2_Nonsense_Mutation_p.E154*	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	340	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCGCCCGCTTCGTCTCCTTTC	0.562											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(1018-1020)GAA>TAA		SH3 and cysteine rich domain 3							31.0	32.0	31.0					12																	57637672		2203	4300	6503	SO:0001587	stop_gained	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57637672C>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.1018G>T	12.37:g.57637672C>A	ENSP00000329200:p.Glu340*		OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_Missense_Mutation_p.R57L|STAC3_uc001snq.2_Nonsense_Mutation_p.E301*|STAC3_uc010srm.1_Nonsense_Mutation_p.E154*	p.E340*	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			12	1213	-			340			SH3 2.		B4DUK9|Q96HU5	Nonsense_Mutation	SNP	ENST00000332782.2	37	c.1018G>T	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929163	0.97116	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.993	16.8234	0.85924	0.0:1.0:0.0:0.0	.	.	.	.	X	301;340;154	.	ENSP00000329200:E340X	E	-	1	0	STAC3	55923939	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	5.655000	0.67981	2.582000	0.87167	0.655000	0.94253	GAA		0.562	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064		5	16	1	0	8.12818e-05	0.001984	8.33022e-05	5	16		
NAV3	89795	broad.mit.edu	37	12	78515755	78515755	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:78515755C>G	ENST00000397909.2	+	16	3958	c.3785C>G	c.(3784-3786)tCt>tGt	p.S1262C	NAV3_ENST00000536525.2_Missense_Mutation_p.S1262C|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.S1262C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1262	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATCTGCCTCTGCACCTAAT	0.463										HNSCC(70;0.22)																												uc001syp.2		NaN																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3784-3786)TCT>TGT		neuron navigator 3							51.0	49.0	49.0					12																	78515755		1986	4179	6165	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515755C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3785C>G	12.37:g.78515755C>G	ENSP00000381007:p.Ser1262Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1262C|NAV3_uc010sub.1_Missense_Mutation_p.S762C|NAV3_uc009zsf.2_Intron	p.S1262C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	3958	+			1262			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3785C>G		.	.	.	.	.	.	.	.	.	.	C	20.9	4.065008	0.76187	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.34072	1.38;1.41;1.38	6.06	6.06	0.98353	.	0.000000	0.40064	U	0.001193	T	0.58061	0.2096	M	0.65498	2.005	0.80722	D	1	B;P;D	0.64830	0.236;0.817;0.994	B;P;P	0.58873	0.291;0.507;0.847	T	0.56511	-0.7967	10	0.66056	D	0.02	-6.1698	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1262;1262;1262	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	1262	ENSP00000446132:S1262C;ENSP00000381007:S1262C;ENSP00000228327:S1262C	ENSP00000228327:S1262C	S	+	2	0	NAV3	77039886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.874000	0.69652	2.871000	0.98454	0.655000	0.94253	TCT		0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383		12	35	0	0	0	0.004007	0	12	35		
PPFIA2	8499	broad.mit.edu	37	12	81741427	81741427	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:81741427G>T	ENST00000549396.1	-	18	2277	c.2117C>A	c.(2116-2118)gCc>gAc	p.A706D	PPFIA2_ENST00000550359.2_Missense_Mutation_p.A553D|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A632D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A273D|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A706D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A607D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A706D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A688D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A706D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A688D	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	706					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTAACAGAGGCAGTAATGGA	0.532																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2116-2118)GCC>GAC		PTPRF interacting protein alpha 2							140.0	148.0	146.0					12																	81741427		1999	4157	6156	SO:0001583	missense	8499							g.chr12:81741427G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2117C>A	12.37:g.81741427G>T	ENSP00000450337:p.Ala706Asp					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.A706D	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2278	-			632					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2117C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398037	0.62177	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.51	5.51	0.81932	.	0.057580	0.64402	D	0.000002	T	0.32164	0.0820	N	0.22421	0.69	0.80722	D	1	B	0.32968	0.392	B	0.32762	0.152	T	0.09100	-1.0690	10	0.39692	T	0.17	-10.8561	16.3071	0.82852	0.0:0.1409:0.8591:0.0	.	706	O75334	LIPA2_HUMAN	D	706;688;273;632;717;688;706;607;706	ENSP00000450337:A706D;ENSP00000450298:A688D;ENSP00000438337:A273D;ENSP00000385093:A632D;ENSP00000327416:A688D;ENSP00000449338:A706D;ENSP00000388373:A607D;ENSP00000447868:A706D	ENSP00000327416:A688D	A	-	2	0	PPFIA2	80265558	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.980000	0.49321	2.741000	0.93983	0.650000	0.86243	GCC		0.532	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				64	103	1	0	7.07328e-35	0.01441	7.81707e-35	64	103		
STAB2	55576	broad.mit.edu	37	12	104044296	104044296	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:104044296G>A	ENST00000388887.2	+	11	1401	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGGCCACTGAGTAAGCTGG	0.448																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(1195-1197)CTG>CTA		stabilin 2 precursor							108.0	99.0	102.0					12																	104044296		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104044296G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1197G>A	12.37:g.104044296G>A							p.L399L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			11	1383	+			399			Extracellular (Potential).|FAS1 1.			Silent	SNP	ENST00000388887.2	37	c.1197G>A	CCDS31888.1																																																																																				0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				14	37	0	0	0	0.00499	0	14	37		
OAS3	4940	broad.mit.edu	37	12	113388756	113388756	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:113388756C>G	ENST00000228928.7	+	7	1812	c.1633C>G	c.(1633-1635)Ctg>Gtg	p.L545V	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	545	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGATGTTAGCCTGCTGCCTGC	0.617																																						uc001tug.2		NaN																	0				central_nervous_system(1)	1						c.(1633-1635)CTG>GTG		2'-5'oligoadenylate synthetase 3							53.0	55.0	54.0					12																	113388756		2036	4191	6227	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388756C>G	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1633C>G	12.37:g.113388756C>G	ENSP00000228928:p.Leu545Val						p.L545V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			7	1720	+			545			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1633C>G	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.200636	0.01581	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.05447	3.44	3.83	-0.84	0.10755	.	.	.	.	.	T	0.01870	0.0059	N	0.02275	-0.615	0.26157	N	0.980057	B	0.15719	0.014	B	0.22152	0.038	T	0.45556	-0.9253	9	0.02654	T	1	.	3.9956	0.09556	0.0:0.3607:0.3794:0.2599	.	545	Q9Y6K5	OAS3_HUMAN	V	545;544	ENSP00000228928:L545V	ENSP00000228928:L545V	L	+	1	2	OAS3	111873139	0.003000	0.15002	0.048000	0.18961	0.347000	0.29111	-0.560000	0.05964	-0.423000	0.07394	-0.367000	0.07326	CTG		0.617	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1				16	34	0	0	0	0.008871	0	16	34		
TBX3	6926	broad.mit.edu	37	12	115118866	115118866	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:115118866C>G	ENST00000257566.3	-	2	864	c.475G>C	c.(475-477)Gat>Cat	p.D159H	TBX3_ENST00000349155.2_Missense_Mutation_p.D159H	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	159					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)			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)		CGACAGTCATCAGCAGCTATA	0.438																																						uc001tvt.1		NaN																	0				ovary(2)|skin(1)	3						c.(475-477)GAT>CAT		T-box 3 protein isoform 2							130.0	135.0	133.0					12																	115118866		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.chr12:115118866C>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.475G>C	12.37:g.115118866C>G	ENSP00000257566:p.Asp159His					TBX3_uc001tvu.1_Missense_Mutation_p.D159H|TBX3_uc010syw.1_Missense_Mutation_p.D159H	p.D159H	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1439	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		159			T-box; first part.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.475G>C	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170388	0.94768	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.91740	-2.9;-2.9	5.81	5.81	0.92471	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.98869	1.0765	10	0.87932	D	0	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	159;159;159	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	H	159	ENSP00000257567:D159H;ENSP00000257566:D159H	ENSP00000257566:D159H	D	-	1	0	TBX3	113603249	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	7.485000	0.81204	2.756000	0.94617	0.655000	0.94253	GAT		0.438	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2		NM_016569, NM_005996		32	92	0	0	0	0.004289	0	32	92		
DNAH10	196385	broad.mit.edu	37	12	124401030	124401030	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr12:124401030C>T	ENST00000409039.3	+	62	10420	c.10395C>T	c.(10393-10395)ttC>ttT	p.F3465F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3465	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCTGACTTCCTCAAGCAGC	0.478																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10393-10395)TTC>TTT		dynein, axonemal, heavy chain 10							126.0	129.0	128.0					12																	124401030		2037	4193	6230	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124401030C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10395C>T	12.37:g.124401030C>T							p.F3465F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	62	10420	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3465			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.10395C>T	CCDS9255.2																																																																																				0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				53	78	0	0	0	0.01441	0	53	78		
PIBF1	10464	broad.mit.edu	37	13	73409499	73409499	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:73409499G>C	ENST00000326291.6	+	9	1554	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	406						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTATGAACGAGAAAACAGGTA	0.269																																						uc001vjc.2		NaN																	0				ovary(1)|breast(1)	2						c.(1216-1218)GAA>CAA		progesterone-induced blocking factor 1							53.0	58.0	56.0					13																	73409499		2202	4295	6497	SO:0001583	missense	10464					centrosome		g.chr13:73409499G>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1216G>C	13.37:g.73409499G>C	ENSP00000317144:p.Glu406Gln					PIBF1_uc001vja.1_Missense_Mutation_p.E406Q|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E406Q|PIBF1_uc010aep.2_5'UTR	p.E406Q	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	9	1521	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	406					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1216G>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770455	0.90108	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.21361	2.01	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.37244	-0.9714	10	0.23302	T	0.38	-20.186	18.7884	0.91964	0.0:0.0:1.0:0.0	.	406;406	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	Q	406	ENSP00000317144:E406Q	ENSP00000317144:E406Q	E	+	1	0	PIBF1	72307500	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.803000	0.91915	2.505000	0.84491	0.460000	0.39030	GAA		0.269	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1		NM_006346		18	48	0	0	0	0.003954	0	18	48		
MYCBP2	23077	broad.mit.edu	37	13	77714227	77714227	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:77714227C>T	ENST00000544440.2	-	51	7376	c.7359G>A	c.(7357-7359)caG>caA	p.Q2453Q	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.Q2453Q|MYCBP2_ENST00000407578.2_Silent_p.Q2491Q					MYC binding protein 2, E3 ubiquitin protein ligase											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)		CTATGCCTATCTGCTCACTCT	0.423																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(7357-7359)CAG>CAA		MYC binding protein 2							81.0	78.0	79.0					13																	77714227		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77714227C>T	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.7359G>A	13.37:g.77714227C>T						MYCBP2_uc010aev.2_Silent_p.Q1857Q	p.Q2453Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	52	7450	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2453						Silent	SNP	ENST00000544440.2	37	c.7359G>A																																																																																					0.423	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		10	36	0	0	0	0.008291	0	10	36		
FARP1	10160	broad.mit.edu	37	13	99047670	99047670	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:99047670G>A	ENST00000319562.6	+	13	1619	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	FARP1_ENST00000376586.2_Missense_Mutation_p.E452K|FARP1_ENST00000595437.1_Missense_Mutation_p.E452K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	452	Poly-Glu.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAGGAAGAGGAGGAGGTCGT	0.687																																						uc001vnj.2		NaN																	0				breast(2)	2						c.(1354-1356)GAG>AAG		FERM, RhoGEF, and pleckstrin domain protein 1							26.0	33.0	31.0					13																	99047670		2154	4203	6357	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047670G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1354G>A	13.37:g.99047670G>A	ENSP00000322926:p.Glu452Lys					FARP1_uc001vnh.2_Missense_Mutation_p.E452K	p.E452K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1690	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		452			Poly-Glu.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1354G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	8.268	0.812815	0.16537	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.77877	-1.13;-0.96	4.8	4.8	0.61643	.	0.572940	0.17967	N	0.155969	T	0.73729	0.3624	L	0.57536	1.79	0.47094	D	0.999314	B;B	0.24533	0.022;0.105	B;B	0.22386	0.006;0.039	T	0.69495	-0.5130	10	0.10636	T	0.68	.	17.8675	0.88800	0.0:0.0:1.0:0.0	.	452;452	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	452;157;452	ENSP00000365771:E452K;ENSP00000322926:E452K	ENSP00000322926:E452K	E	+	1	0	FARP1	97845671	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	5.473000	0.66774	2.208000	0.71279	0.462000	0.41574	GAG		0.687	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		15	22	0	0	0	0.00499	0	15	22		
ITGBL1	9358	broad.mit.edu	37	13	102359164	102359164	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:102359164C>G	ENST00000376180.3	+	9	1410	c.1191C>G	c.(1189-1191)ctC>ctG	p.L397L	ITGBL1_ENST00000545560.2_Silent_p.L256L|ITGBL1_ENST00000376162.3_Silent_p.L304L	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	397	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGGAAAGCTCTGCCAACATC	0.498																																						uc001vpb.2		NaN																	0				ovary(1)|skin(1)	2						c.(1189-1191)CTC>CTG		integrin, beta-like 1 (with EGF-like repeat							162.0	136.0	145.0					13																	102359164		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359164C>G	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1191C>G	13.37:g.102359164C>G						ITGBL1_uc010agb.2_Silent_p.L348L|ITGBL1_uc001vpc.3_Silent_p.L256L	p.L397L	NM_004791	NP_004782	O95965	ITGBL_HUMAN			9	1410	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		397			VIII.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.1191C>G	CCDS9499.1																																																																																				0.498	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2		NM_004791		7	54	0	0	0	0.008291	0	7	54		
COL4A2	1284	broad.mit.edu	37	13	111117923	111117923	+	Missense_Mutation	SNP	C	C	T	rs200735885	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr13:111117923C>T	ENST00000360467.5	+	25	2254	c.1948C>T	c.(1948-1950)Cct>Tct	p.P650S	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	650	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCCCTCCTGGCCCCGC	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		16609	0.0		0.003	False		,,,				2504	0.0					uc001vqx.2		NaN																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1948-1950)CCT>TCT		alpha 2 type IV collagen preproprotein		C	SER/PRO	0,3722		0,0,1861	27.0	31.0	30.0		1948	2.1	0.0	13		30	15,8171		0,15,4078	yes	missense	COL4A2	NM_001846.2	74	0,15,5939	TT,TC,CC		0.1832,0.0,0.126	benign	650/1713	111117923	15,11893	1861	4093	5954	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117923C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1948C>T	13.37:g.111117923C>T	ENSP00000353654:p.Pro650Ser						p.P650S	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2237	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	650			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1948C>T	CCDS41907.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.968	0.748473	0.15710	0.0	0.001832	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.95622	-3.76	4.82	2.11	0.27256	.	0.446043	0.18755	N	0.132069	D	0.91650	0.7361	L	0.53729	1.69	0.42502	D	0.992932	B	0.14805	0.011	B	0.10450	0.005	D	0.84141	0.0417	10	0.39692	T	0.17	.	5.4203	0.16396	0.0:0.5689:0.1409:0.2902	.	650	P08572	CO4A2_HUMAN	S	650	ENSP00000353654:P650S	ENSP00000257309:P650S	P	+	1	0	COL4A2	109915924	0.406000	0.25344	0.039000	0.18376	0.080000	0.17528	0.650000	0.24858	0.106000	0.17784	0.462000	0.41574	CCT		0.587	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846		9	18	0	0	0	0.010729	0	9	18		
PARP2	10038	broad.mit.edu	37	14	20824776	20824776	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:20824776G>A	ENST00000250416.5	+	13	1323	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	PARP2_ENST00000527915.1_Missense_Mutation_p.M432I|PARP2_ENST00000429687.3_Missense_Mutation_p.M419I	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	432	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTTCCAGGATGAGTAACTGGG	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001vxc.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1294-1296)ATG>ATA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2							290.0	278.0	282.0					14																	20824776		1938	4141	6079	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20824776G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1296G>A	14.37:g.20824776G>A	ENSP00000250416:p.Met432Ile					PARP2_uc001vxd.2_Missense_Mutation_p.M419I|PARP2_uc001vxb.1_Missense_Mutation_p.M432I|PARP2_uc010tle.1_Missense_Mutation_p.M182I	p.M432I	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	13	1324	+	all_cancers(95;0.00092)	all_lung(585;0.235)	432			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1296G>A	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846943|1.846943	0.32606|0.32606	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000539930|ENST00000429687;ENST00000250416;ENST00000527915	.|T;T;T	.|0.12984	.|2.63;2.63;2.63	5.43|5.43	2.54|2.54	0.30619|0.30619	.|Poly(ADP-ribose) polymerase, catalytic domain (2);	.|0.082223	.|0.50627	.|D	.|0.000115	T|T	0.03095|0.03095	0.0091|0.0091	N|N	0.00729|0.00729	-1.24|-1.24	0.22701|0.22701	N|N	0.998833|0.998833	.|B;B;B	.|0.23990	.|0.095;0.001;0.006	.|B;B;B	.|0.19946	.|0.027;0.0;0.006	T|T	0.40194|0.40194	-0.9576|-0.9576	5|10	.|0.21540	.|T	.|0.41	-4.9925|-4.9925	5.2436|5.2436	0.15485|0.15485	0.2278:0.0:0.6186:0.1536|0.2278:0.0:0.6186:0.1536	.|.	.|345;419;432	.|B4DV82;Q9UGN5-2;Q9UGN5	.|.;.;PARP2_HUMAN	K|I	109|419;432;432	.|ENSP00000392972:M419I;ENSP00000250416:M432I;ENSP00000432283:M432I	.|ENSP00000250416:M432I	E|M	+|+	1|3	0|0	PARP2|PARP2	19894616|19894616	0.949000|0.949000	0.32298|0.32298	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	0.153000|0.153000	0.16323|0.16323	0.830000|0.830000	0.34757|0.34757	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2				57	185	0	0	0	0.01441	0	57	185		
TEP1	7011	broad.mit.edu	37	14	20848600	20848600	+	Silent	SNP	G	G	A	rs200043242		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:20848600G>A	ENST00000262715.5	-	34	4837	c.4797C>T	c.(4795-4797)ccC>ccT	p.P1599P	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Silent_p.P1491P	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1599					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGTCAGCCTCGGGGAGCTTTT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16912	0.0		0.001	False		,,,				2504	0.0					uc001vxe.2		NaN																	0				ovary(5)	5						c.(4795-4797)CCC>CCT		telomerase-associated protein 1							50.0	51.0	51.0					14																	20848600		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848600G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4797C>T	14.37:g.20848600G>A						TEP1_uc010ahk.2_Silent_p.P942P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.P1491P|TEP1_uc010tlh.1_5'UTR	p.P1599P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	34	4837	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1599					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4797C>T	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		5	36	0	0	0	0.001984	0	5	36		
ACIN1	22985	broad.mit.edu	37	14	23533582	23533582	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:23533582G>A	ENST00000262710.1	-	11	2925	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	ACIN1_ENST00000457657.1_Silent_p.I826I|ACIN1_ENST00000357481.2_Silent_p.I108I|ACIN1_ENST00000557515.1_Silent_p.I107I|ACIN1_ENST00000555053.1_Silent_p.I865I|ACIN1_ENST00000338631.6_Silent_p.I139I|ACIN1_ENST00000397341.3_Silent_p.I108I|ACIN1_ENST00000605057.1_Silent_p.I808I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	866					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATTCAGTGGTGATACTGATGG	0.587																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2596-2598)ATC>ATT		apoptotic chromatin condensation inducer 1							204.0	193.0	197.0					14																	23533582		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23533582G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2598C>T	14.37:g.23533582G>A						ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.I108I|ACIN1_uc001wiq.3_Silent_p.I108I|ACIN1_uc001wir.3_Silent_p.I139I|ACIN1_uc001wis.3_Silent_p.I547I|ACIN1_uc010akg.2_Silent_p.I865I	p.I866I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	11	2926	-	all_cancers(95;1.36e-05)		866					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.2598C>T	CCDS9587.1																																																																																				0.587	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		60	113	0	0	0	0.01441	0	60	113		
HECTD1	25831	broad.mit.edu	37	14	31611068	31611068	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:31611068C>T	ENST00000399332.1	-	18	3357	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.E957K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	957					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTTACCTTTCATCATCTTCA	0.294																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(2869-2871)GAA>AAA		HECT domain containing 1							52.0	50.0	50.0					14																	31611068		1808	4049	5857	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31611068C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2869G>A	14.37:g.31611068C>T	ENSP00000382269:p.Glu957Lys					HECTD1_uc001wrd.1_Missense_Mutation_p.E472K	p.E957K	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	18	3358	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		957					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2869G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751901	0.69533	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41400	1.0;1.0;1.49	5.29	5.29	0.74685	Armadillo-type fold (1);	0.139707	0.46758	U	0.000272	T	0.56834	0.2012	L	0.53249	1.67	0.80722	D	1	P;P	0.52842	0.478;0.956	B;P	0.62184	0.127;0.899	T	0.48198	-0.9056	10	0.22109	T	0.4	.	17.6915	0.88269	0.0:1.0:0.0:0.0	.	957;957	D3DS86;Q9ULT8	.;HECD1_HUMAN	K	957;959;957;431	ENSP00000450697:E957K;ENSP00000382269:E957K;ENSP00000451860:E431K	ENSP00000261312:E959K	E	-	1	0	HECTD1	30680819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.380000	0.79704	2.451000	0.82905	0.655000	0.94253	GAA		0.294	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				6	10	0	0	0	0.001168	0	6	10		
RALGAPA1	253959	broad.mit.edu	37	14	36128344	36128344	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:36128344C>A	ENST00000389698.3	-	27	4259	c.3869G>T	c.(3868-3870)cGa>cTa	p.R1290L	RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290L|RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303L|RALGAPA1_ENST00000258840.6_Splice_Site_p.R1337L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1290					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCGACCTACCGTGCAGGACC	0.368																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(3868-3870)CGA>CTA		Ral GTPase activating protein, alpha subunit 1							63.0	60.0	61.0					14																	36128344		2202	4300	6502	SO:0001630	splice_region_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36128344C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3869+1G>T	14.37:g.36128344C>A						RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1290L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1303L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1337L	p.R1290L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			27	4260	-			1290					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3869G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315892	0.95655	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	0.999;0.994;1.0;0.999	D;D;D;D	0.91635	0.997;0.929;0.999;0.985	D	0.87228	0.2258	9	.	.	.	-7.1273	20.0763	0.97746	0.0:1.0:0.0:0.0	.	1337;1303;1290;1290	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1290;1290;1290;1337;1303;1337	ENSP00000374348:R1290L;ENSP00000302647:R1290L;ENSP00000258840:R1337L;ENSP00000371803:R1303L;ENSP00000451877:R1337L	.	R	-	2	0	RALGAPA1	35198095	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.636000	0.74299	2.756000	0.94617	0.655000	0.94253	CGA		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	Missense_Mutation	27	21	1	0	1.60099e-16	0.004878	1.72662e-16	27	21		
POLE2	5427	broad.mit.edu	37	14	50118022	50118022	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:50118022G>A	ENST00000216367.5	-	16	1384	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	POLE2_ENST00000539565.2_Missense_Mutation_p.R403C|POLE2_ENST00000554396.1_Missense_Mutation_p.R429C|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	429					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTAGGAAAACGGACGCAGTTT	0.328																																						uc001wwu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1285-1287)CGT>TGT		DNA-directed DNA polymerase epsilon 2							80.0	80.0	80.0					14																	50118022		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50118022G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1285C>T	14.37:g.50118022G>A	ENSP00000216367:p.Arg429Cys					SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.R143C|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.R144C	p.R429C	NM_002692	NP_002683	P56282	DPOE2_HUMAN			16	1299	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		429					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1285C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324697	0.95708	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.32515	1.45;1.45;1.45	5.73	5.73	0.89815	DNA polymerase alpha/epsilon, subunit B (1);	0.047301	0.85682	D	0.000000	T	0.54983	0.1892	M	0.72353	2.195	0.80722	D	1	D;D;D	0.71674	0.994;0.994;0.998	P;P;P	0.61397	0.766;0.851;0.888	T	0.52902	-0.8513	10	0.56958	D	0.05	-7.5276	20.2602	0.98440	0.0:0.0:1.0:0.0	.	429;403;429	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	C	429;403;429	ENSP00000216367:R429C;ENSP00000446313:R403C;ENSP00000451621:R429C	ENSP00000216367:R429C	R	-	1	0	POLE2	49187772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.251000	0.65438	2.861000	0.98227	0.655000	0.94253	CGT		0.328	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1		NM_002692		3	37	0	0	0	0.001168	0	3	37		
SOS2	6655	broad.mit.edu	37	14	50585132	50585132	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:50585132T>C	ENST00000216373.5	-	23	4203	c.3929A>G	c.(3928-3930)tAc>tGc	p.Y1310C	VCPKMT_ENST00000395860.2_5'Flank|VCPKMT_ENST00000395859.2_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.Y1277C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1310					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTCCCGTTTGTAAGTCTTTGG	0.483																																						uc001wxs.3		NaN																	0				ovary(2)	2						c.(3928-3930)TAC>TGC		son of sevenless homolog 2							88.0	82.0	84.0					14																	50585132		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585132T>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3929A>G	14.37:g.50585132T>C	ENSP00000216373:p.Tyr1310Cys					SOS2_uc010ans.2_Missense_Mutation_p.Y145C|SOS2_uc010tql.1_Missense_Mutation_p.Y1277C|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	p.Y1310C	NM_006939	NP_008870	Q07890	SOS2_HUMAN			23	4027	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1310					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3929A>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098614	0.56183	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.80393	-1.37;-1.24	5.37	5.37	0.77165	.	0.118903	0.64402	D	0.000015	D	0.88217	0.6377	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.89494	0.3759	10	0.87932	D	0	.	14.5459	0.68030	0.0:0.0:0.0:1.0	.	1277;1310	B7ZKT6;Q07890	.;SOS2_HUMAN	C	1310;1277	ENSP00000216373:Y1310C;ENSP00000445328:Y1277C	ENSP00000216373:Y1310C	Y	-	2	0	SOS2	49654882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.926000	0.75835	2.015000	0.59207	0.460000	0.39030	TAC		0.483	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2				35	37	0	0	0	0.00874	0	35	37		
VASH1	22846	broad.mit.edu	37	14	77242469	77242469	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:77242469G>A	ENST00000167106.4	+	5	1398	c.765G>A	c.(763-765)aaG>aaA	p.K255K	RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000554743.1_5'Flank|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	255					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)				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)		ACGTGCTCAAGAAGGTGAAGC	0.677																																						uc001xst.2		NaN																	0					0						c.(763-765)AAG>AAA		vasohibin 1							27.0	28.0	28.0					14																	77242469		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:77242469G>A	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		ENST00000167106.4:c.765G>A	14.37:g.77242469G>A							p.K255K	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	5	1695	+			255					Q96H02|Q9UBF4|Q9Y629	Silent	SNP	ENST00000167106.4	37	c.765G>A	CCDS9851.1																																																																																				0.677	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1		NM_014909		5	13	0	0	0	0.00308	0	5	13		
GALC	2581	broad.mit.edu	37	14	88459326	88459326	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:88459326G>A	ENST00000261304.2	-	1	289	c.183C>T	c.(181-183)gtC>gtT	p.V61V	GALC_ENST00000393568.4_Silent_p.V61V|GALC_ENST00000544807.2_5'Flank|GALC_ENST00000393569.2_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	61					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGCCGCCGCTGACCGCGCCGA	0.776																																						uc001xvt.2		NaN																	0					0						c.(181-183)GTC>GTT		galactosylceramidase isoform a precursor							2.0	2.0	2.0					14																	88459326		1047	2482	3529	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88459326G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.183C>T	14.37:g.88459326G>A						GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.V61V|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.V61V	p.V61V	NM_000153	NP_000144	P54803	GALC_HUMAN			1	582	-			61					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.183C>T	CCDS9878.2																																																																																				0.776	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2				5	3	0	0	0	0.004482	0	5	3		
TRIP11	9321	broad.mit.edu	37	14	92471337	92471337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:92471337G>A	ENST00000267622.4	-	11	3356	c.2983C>T	c.(2983-2985)Caa>Taa	p.Q995*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	995					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTGTTTCTTGAAAAATATCA	0.323			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NaN		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2983-2985)CAA>TAA		thyroid hormone receptor interactor 11							55.0	57.0	57.0					14																	92471337		2202	4300	6502	SO:0001587	stop_gained	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471337G>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2983C>T	14.37:g.92471337G>A	ENSP00000267622:p.Gln995*					TRIP11_uc010auf.1_Nonsense_Mutation_p.Q731*	p.Q995*	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3771	-			995			Potential.		B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	ENST00000267622.4	37	c.2983C>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.662491|6.662491	0.97743|0.97743	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	.|.	.|.	.|.	5.95|5.95	5.05|5.05	0.67936|0.67936	.|.	0.451488|.	0.24700|.	N|.	0.036301|.	.|T	.|0.73079	.|0.3541	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74450	.|-0.3661	.|3	0.17832|.	T|.	0.49|.	.|.	17.0017|17.0017	0.86383|0.86383	0.0:0.1347:0.8653:0.0|0.0:0.1347:0.8653:0.0	.|.	.|.	.|.	.|.	X|L	995;731|710	.|.	ENSP00000267622:Q995X|.	Q|S	-|-	1|2	0|0	TRIP11|TRIP11	91541090|91541090	1.000000|1.000000	0.71417|0.71417	0.690000|0.690000	0.30148|0.30148	0.963000|0.963000	0.63663|0.63663	6.755000|6.755000	0.74914|0.74914	1.505000|1.505000	0.48720|0.48720	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1				5	24	0	0	0	0.000602	0	5	24		
AK7	122481	broad.mit.edu	37	14	96924468	96924468	+	Missense_Mutation	SNP	G	G	C	rs149622950		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:96924468G>C	ENST00000267584.4	+	12	1320	c.1276G>C	c.(1276-1278)Gaa>Caa	p.E426Q		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	426	Adenylate kinase.|NMPbind. {ECO:0000250}.|Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E426K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		agaagaagtcgaagaggaaga	0.507																																						uc001yfn.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1276-1278)GAA>CAA		adenylate kinase 7							111.0	92.0	98.0					14																	96924468		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96924468G>C	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1276G>C	14.37:g.96924468G>C	ENSP00000267584:p.Glu426Gln						p.E426Q	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	12	1320	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	426			Adenylate kinase.|Potential.|Poly-Glu.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1276G>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181357	0.21787	.	.	ENSG00000140057	ENST00000267584	D	0.93763	-3.28	4.69	4.69	0.59074	.	0.695501	0.14222	N	0.333332	D	0.91938	0.7447	L	0.55213	1.73	0.80722	D	1	B	0.25743	0.133	B	0.30105	0.111	D	0.88786	0.3274	10	0.32370	T	0.25	-0.8093	16.4143	0.83729	0.0:0.0:1.0:0.0	.	426	Q96M32	KAD7_HUMAN	Q	426	ENSP00000267584:E426Q	ENSP00000267584:E426Q	E	+	1	0	AK7	95994221	0.986000	0.35501	0.406000	0.26421	0.237000	0.25408	3.731000	0.55013	2.167000	0.68274	0.313000	0.20887	GAA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1				18	20	0	0	0	0.006122	0	18	20		
AHNAK2	113146	broad.mit.edu	37	14	105407021	105407021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:105407021C>G	ENST00000333244.5	-	7	14886	c.14767G>C	c.(14767-14769)Gaa>Caa	p.E4923Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4923						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAAGCTCTTCTGGGCCCTGA	0.587																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(14767-14769)GAA>CAA		AHNAK nucleoprotein 2							43.0	43.0	43.0					14																	105407021		1917	4139	6056	SO:0001583	missense	113146					nucleus		g.chr14:105407021C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14767G>C	14.37:g.105407021C>G	ENSP00000353114:p.Glu4923Gln					AHNAK2_uc001ypx.2_Missense_Mutation_p.E4823Q	p.E4923Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14887	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4923					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14767G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921427	0.17982	.	.	ENSG00000185567	ENST00000333244	T	0.01059	5.39	3.21	-1.98	0.07480	.	.	.	.	.	T	0.00845	0.0028	N	0.19112	0.55	0.09310	N	1	P	0.50528	0.936	P	0.47015	0.534	T	0.41142	-0.9525	9	0.13470	T	0.59	.	0.5328	0.00631	0.4468:0.165:0.1688:0.2193	.	4923	Q8IVF2	AHNK2_HUMAN	Q	4923	ENSP00000353114:E4923Q	ENSP00000353114:E4923Q	E	-	1	0	AHNAK2	104478066	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.918000	0.28678	-0.015000	0.14150	0.563000	0.77884	GAA		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		11	57	0	0	0	0.008291	0	11	57		
CYFIP1	23191	broad.mit.edu	37	15	22925788	22925788	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:22925788G>T	ENST00000313077.7	+	2	131	c.6G>T	c.(4-6)gcG>gcT	p.A2A	CYFIP1_ENST00000560848.1_Silent_p.A2A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 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)		CCAGGATGGCGGCCCAGGTGA	0.647																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(4-6)GCG>GCT		cytoplasmic FMR1 interacting protein 1 isoform							37.0	38.0	38.0					15																	22925788		2203	4300	6503	SO:0001819	synonymous_variant	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.chr15:22925788G>T	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.6G>T	15.37:g.22925788G>T						CYFIP1_uc001yut.2_Silent_p.A2A|CYFIP1_uc010aya.1_Silent_p.A60A	p.A2A	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)	2	110	+		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)	2						Silent	SNP	ENST00000313077.7	37	c.6G>T	CCDS10009.1																																																																																				0.647	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		10	9	1	0	0.000151284	0.001855	0.000154161	10	9		
MAP1A	4130	broad.mit.edu	37	15	43819552	43819552	+	Missense_Mutation	SNP	G	G	A	rs373186264		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43819552G>A	ENST00000300231.5	+	4	6331	c.5881G>A	c.(5881-5883)Gat>Aat	p.D1961N	MAP1A_ENST00000382031.1_Missense_Mutation_p.D2199N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D1961N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1961					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCTATCCTGATGAGAGAAG	0.562																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5881-5883)GAT>AAT		microtubule-associated protein 1A	Estramustine(DB01196)	G	ASN/ASP	0,4358		0,0,2179	73.0	79.0	77.0		5881	4.9	1.0	15		77	1,8567		0,1,4283	no	missense	MAP1A	NM_002373.5	23	0,1,6462	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	1961/2804	43819552	1,12925	2179	4284	6463	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819552G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5881G>A	15.37:g.43819552G>A	ENSP00000300231:p.Asp1961Asn						p.D1961N	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6348	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1961					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5881G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923728	0.52653	0.0	1.17E-4	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02140	4.43;4.44;4.44	4.88	4.88	0.63580	.	0.000000	0.35124	N	0.003439	T	0.04588	0.0125	L	0.34521	1.04	0.37780	D	0.926974	D	0.53619	0.961	P	0.51324	0.666	T	0.47995	-0.9073	10	0.66056	D	0.02	-12.6652	14.7042	0.69176	0.0:0.1454:0.8546:0.0	.	1961	P78559	MAP1A_HUMAN	N	2199;1961;1961	ENSP00000371462:D2199N;ENSP00000382380:D1961N;ENSP00000300231:D1961N	ENSP00000300231:D1961N	D	+	1	0	MAP1A	41606844	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	4.422000	0.59854	2.537000	0.85549	0.563000	0.77884	GAT		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		23	68	0	0	0	0.008361	0	23	68		
MAP1A	4130	broad.mit.edu	37	15	43820098	43820098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43820098G>T	ENST00000300231.5	+	4	6877	c.6427G>T	c.(6427-6429)Gag>Tag	p.E2143*	MAP1A_ENST00000382031.1_Nonsense_Mutation_p.E2381*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.E2143*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2143					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAGAAACTGAGGCACATGT	0.592																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(6427-6429)GAG>TAG		microtubule-associated protein 1A	Estramustine(DB01196)						68.0	73.0	72.0					15																	43820098		1963	4149	6112	SO:0001587	stop_gained	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820098G>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6427G>T	15.37:g.43820098G>T	ENSP00000300231:p.Glu2143*						p.E2143*	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6894	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2143					O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	ENST00000300231.5	37	c.6427G>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	47	13.085190	0.99718	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	4.66	-0.8	0.10897	.	0.240725	0.21650	N	0.071191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-4.4416	2.1228	0.03730	0.1683:0.2857:0.3991:0.1468	.	.	.	.	X	2381;2143;2143	.	ENSP00000300231:E2143X	E	+	1	0	MAP1A	41607390	0.662000	0.27439	0.053000	0.19242	0.853000	0.48598	0.724000	0.25954	-0.322000	0.08615	0.655000	0.94253	GAG		0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		19	87	1	0	2.00529e-23	0.00333	2.18908e-23	19	87		
MAP1A	4130	broad.mit.edu	37	15	43821274	43821274	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:43821274G>A	ENST00000300231.5	+	4	8053	c.7603G>A	c.(7603-7605)Gaa>Aaa	p.E2535K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E2773K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2535K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2535					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CGACTCAGATGAAGATGGAGA	0.587																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(7603-7605)GAA>AAA		microtubule-associated protein 1A	Estramustine(DB01196)						96.0	99.0	98.0					15																	43821274		2030	4184	6214	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821274G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7603G>A	15.37:g.43821274G>A	ENSP00000300231:p.Glu2535Lys						p.E2535K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	8070	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2535					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7603G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572384	0.65765	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02472	4.28;4.31;4.29	5.14	5.14	0.70334	.	.	.	.	.	T	0.13030	0.0316	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.00253	-1.1875	9	0.72032	D	0.01	-15.8314	18.7812	0.91933	0.0:0.0:1.0:0.0	.	2535	P78559	MAP1A_HUMAN	K	2773;2535;2535	ENSP00000371462:E2773K;ENSP00000382380:E2535K;ENSP00000300231:E2535K	ENSP00000300231:E2535K	E	+	1	0	MAP1A	41608566	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.657000	0.98554	2.660000	0.90430	0.462000	0.41574	GAA		0.587	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		37	160	0	0	0	0.01441	0	37	160		
TRIM69	140691	broad.mit.edu	37	15	45047506	45047506	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:45047506G>C	ENST00000559390.1	+	3	1343	c.415G>C	c.(415-417)Gat>Cat	p.D139H	TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.D139H			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	139	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCAATGCAAGGATGCTCGGTT	0.507																																					Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NaN																	0					0						c.(415-417)GAT>CAT		tripartite motif-containing 69 isoform a							77.0	70.0	72.0					15																	45047506		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047506G>C	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.415G>C	15.37:g.45047506G>C	ENSP00000453177:p.Asp139His					TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.D139H|TRIM69_uc001zuh.1_Intron	p.D139H	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1310	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	139			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.415G>C	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031894	0.75504	.	.	ENSG00000185880	ENST00000329464	T	0.56941	0.43	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000005	T	0.71651	0.3365	M	0.72894	2.215	0.43896	D	0.996521	D	0.89917	1.0	D	0.80764	0.994	T	0.72574	-0.4252	10	0.52906	T	0.07	.	16.8512	0.85994	0.0:0.0:1.0:0.0	.	139	Q86WT6	TRI69_HUMAN	H	139	ENSP00000332284:D139H	ENSP00000332284:D139H	D	+	1	0	TRIM69	42834798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.525000	0.67110	2.648000	0.89879	0.563000	0.77884	GAT		0.507	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1				30	36	0	0	0	0.004289	0	30	36		
SEMA6D	80031	broad.mit.edu	37	15	48056959	48056959	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:48056959G>A	ENST00000316364.5	+	12	1661	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	SEMA6D_ENST00000389428.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D408N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D408N|SEMA6D_ENST00000389425.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D408N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D408N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D408N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D408N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D408N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	408	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCCATTGCCGATGAGCCCTG	0.502																																						uc010bek.2		NaN																	0				skin(3)|breast(1)	4						c.(1222-1224)GAT>AAT		semaphorin 6D isoform 4 precursor							78.0	73.0	75.0					15																	48056959		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056959G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1222G>A	15.37:g.48056959G>A	ENSP00000324857:p.Asp408Asn					SEMA6D_uc001zvw.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvx.1_Missense_Mutation_p.D408N|SEMA6D_uc001zvy.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvz.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwa.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwb.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwc.2_Missense_Mutation_p.D408N	p.D408N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	12	1582	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	408			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1222G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339794	0.24339	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98;2.98	5.71	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235842	0.48767	N	0.000161	T	0.05090	0.0136	N	0.04686	-0.185	0.58432	D	0.999999	B;B;B;B;B	0.18013	0.006;0.025;0.006;0.001;0.006	B;B;B;B;B	0.16722	0.008;0.009;0.008;0.005;0.016	T	0.16988	-1.0384	10	0.02654	T	1	.	14.4352	0.67277	0.0702:0.0:0.9298:0.0	.	408;408;408;408;408	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	408	ENSP00000442040:D408N;ENSP00000446152:D408N;ENSP00000324857:D408N;ENSP00000374084:D408N;ENSP00000374083:D408N;ENSP00000346786:D408N;ENSP00000350770:D408N;ENSP00000374079:D408N;ENSP00000348276:D408N;ENSP00000374076:D408N	ENSP00000324857:D408N	D	+	1	0	SEMA6D	45844251	1.000000	0.71417	0.484000	0.27391	0.925000	0.55904	6.730000	0.74780	1.413000	0.46997	0.655000	0.94253	GAT		0.502	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966		4	52	0	0	0	0.000602	0	4	52		
SLC12A1	6557	broad.mit.edu	37	15	48548007	48548007	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:48548007G>A	ENST00000558405.1	+	15	1956		c.e15-1		SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000396577.3_Splice_Site			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTATCCACAGATGTGAACTG	0.423																																						uc001zwn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.e16-1		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						84.0	73.0	77.0					15																	48548007		2198	4297	6495	SO:0001630	splice_region_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48548007G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1943-1G>A	15.37:g.48548007G>A						SLC12A1_uc010uew.1_Splice_Site_p.D454_splice|SLC12A1_uc010bem.2_Splice_Site_p.D648_splice|SLC12A1_uc001zwq.3_Splice_Site_p.D419_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D375_splice	p.D648_splice	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	16	2159	+		all_lung(180;0.00219)						A8JYA2|E9PDW4	Splice_Site	SNP	ENST00000558405.1	37	c.1943_splice	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005220	0.93287	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A1	46335299	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	.		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			Intron	3	10	0	0	0	0.009096	0	3	10		
PRTG	283659	broad.mit.edu	37	15	55912272	55912272	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:55912272G>T	ENST00000389286.4	-	20	3438	c.3391C>A	c.(3391-3393)Cat>Aat	p.H1131N		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTGGACTCATGAGAAAACCGC	0.483																																						uc002adg.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(3391-3393)CAT>AAT		protogenin precursor							96.0	96.0	96.0					15																	55912272		1902	4125	6027	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55912272G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3391C>A	15.37:g.55912272G>T	ENSP00000373937:p.His1131Asn						p.H1131N	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3439	-			1131						Missense_Mutation	SNP	ENST00000389286.4	37	c.3391C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933730	0.52866	.	.	ENSG00000166450	ENST00000389286	T	0.52295	0.67	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	N	0.24115	0.695	0.80722	D	1	B	0.21520	0.057	B	0.18871	0.023	T	0.21415	-1.0246	10	0.87932	D	0	-19.6104	19.132	0.93412	0.0:0.0:1.0:0.0	.	1131	Q2VWP7	PRTG_HUMAN	N	1131	ENSP00000373937:H1131N	ENSP00000373937:H1131N	H	-	1	0	PRTG	53699564	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.581000	0.90788	2.768000	0.95171	0.650000	0.86243	CAT		0.483	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814		30	44	1	0	1.36615e-20	0.013726	1.48832e-20	30	44		
ALDH1A2	8854	broad.mit.edu	37	15	58357784	58357784	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:58357784G>A	ENST00000249750.4	-	1	832	c.65C>T	c.(64-66)tCg>tTg	p.S22L	ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.S22L|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000537372.1_5'UTR	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	22					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	GAGGTGCAGCGACGCCATGAG	0.662																																						uc002aex.2		NaN																	0				central_nervous_system(1)	1						c.(64-66)TCG>TTG		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						34.0	37.0	36.0					15																	58357784		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58357784G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.65C>T	15.37:g.58357784G>A	ENSP00000249750:p.Ser22Leu					ALDH1A2_uc002aey.2_Missense_Mutation_p.S22L|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	p.S22L	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	1	123	-			22					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.65C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994985	0.74703	.	.	ENSG00000128918	ENST00000249750;ENST00000347587	T;T	0.75367	-0.93;-0.89	3.58	3.58	0.41010	Aldehyde/histidinol dehydrogenase (1);	0.265636	0.38005	N	0.001851	T	0.58409	0.2120	N	0.19112	0.55	0.80722	D	1	B;B	0.31100	0.308;0.163	B;B	0.21360	0.034;0.01	T	0.64927	-0.6292	10	0.72032	D	0.01	.	14.4192	0.67171	0.0:0.0:1.0:0.0	.	22;22	O94788-2;O94788	.;AL1A2_HUMAN	L	22	ENSP00000249750:S22L;ENSP00000309623:S22L	ENSP00000249750:S22L	S	-	2	0	ALDH1A2	56145076	1.000000	0.71417	0.960000	0.40013	0.804000	0.45430	8.488000	0.90458	1.871000	0.54225	0.456000	0.33151	TCG		0.662	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1				10	17	0	0	0	0.001855	0	10	17		
HERC1	8925	broad.mit.edu	37	15	63920999	63920999	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:63920999T>C	ENST00000443617.2	-	70	13069	c.12982A>G	c.(12982-12984)Acc>Gcc	p.T4328A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4328					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATGGTTGGTATGGCCTAAG	0.468																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(12982-12984)ACC>GCC		hect domain and RCC1-like domain 1							132.0	126.0	128.0					15																	63920999		1880	4118	5998	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63920999T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12982A>G	15.37:g.63920999T>C	ENSP00000390158:p.Thr4328Ala						p.T4328A	NM_003922	NP_003913	Q15751	HERC1_HUMAN			70	13130	-			4328			RCC1 14.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12982A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584289	0.65992	.	.	ENSG00000103657	ENST00000443617	D	0.84800	-1.9	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	L	0.53729	1.69	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.90998	0.4840	10	0.59425	D	0.04	.	16.3034	0.82836	0.0:0.0:0.0:1.0	.	4328	Q15751	HERC1_HUMAN	A	4328	ENSP00000390158:T4328A	ENSP00000390158:T4328A	T	-	1	0	HERC1	61708052	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.174000	0.71943	2.245000	0.73994	0.454000	0.30748	ACC		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		47	99	0	0	0	0.01441	0	47	99		
ANKDD1A	348094	broad.mit.edu	37	15	65209672	65209672	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:65209672G>A	ENST00000380230.3	+	3	255	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E76K|ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E76K|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	76					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGCTGTGGACGAGGAGGATGC	0.657																																						uc002aoa.2		NaN																	0				ovary(1)	1						c.(226-228)GAG>AAG		ankyrin repeat and death domain containing 1A							19.0	22.0	21.0					15																	65209672		2149	4257	6406	SO:0001583	missense	348094				signal transduction			g.chr15:65209672G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.226G>A	15.37:g.65209672G>A	ENSP00000369579:p.Glu76Lys					ANKDD1A_uc002anx.1_Missense_Mutation_p.E76K|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Missense_Mutation_p.E46K	p.E76K	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN			3	255	+			76			ANK 2.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.226G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	7.007	0.555963	0.13436	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000483400	T;T;T;T	0.71103	2.43;2.43;2.43;-0.54	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.52158	0.1717	N	0.17474	0.49	0.80722	D	1	B;B;B	0.28512	0.214;0.017;0.014	B;B;B	0.17433	0.018;0.009;0.005	T	0.51466	-0.8702	9	0.31617	T	0.26	-3.8615	12.7596	0.57356	0.0:0.0:1.0:0.0	.	46;76;76	E7ET26;Q495B1;Q495B1-1	.;AKD1A_HUMAN;.	K	76;76;76;46;42	ENSP00000369579:E76K;ENSP00000350329:E76K;ENSP00000379070:E76K;ENSP00000423548:E42K	ENSP00000326203:E46K	E	+	1	0	ANKDD1A	62996725	1.000000	0.71417	0.366000	0.25914	0.869000	0.49853	4.575000	0.60908	2.390000	0.81377	0.555000	0.69702	GAG		0.657	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2		NM_182703		2	3	0	0	0	0.009096	0	2	3		
DIS3L	115752	broad.mit.edu	37	15	66625127	66625127	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:66625127C>T	ENST00000319212.4	+	16	2785	c.2735C>T	c.(2734-2736)tCa>tTa	p.S912L	DIS3L_ENST00000319194.5_Missense_Mutation_p.S829L|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	912					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)			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						TTAGTCATCTCATGTGGCCCA	0.363																																						uc010ujm.1		NaN																	0				ovary(2)	2						c.(2734-2736)TCA>TTA		DIS3 mitotic control homolog (S.							86.0	85.0	86.0					15																	66625127		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66625127C>T		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.2735C>T	15.37:g.66625127C>T	ENSP00000321711:p.Ser912Leu					DIS3L_uc002app.2_Missense_Mutation_p.S829L|DIS3L_uc010bho.2_Missense_Mutation_p.S778L	p.S912L	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			16	2750	+			912					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.2735C>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508699	0.44660	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.23348	1.91;1.92	5.64	4.73	0.59995	.	0.481200	0.23672	N	0.045708	T	0.15176	0.0366	N	0.14661	0.345	0.80722	D	1	B	0.29862	0.259	B	0.24006	0.05	T	0.07195	-1.0785	10	0.27082	T	0.32	-23.3007	13.8272	0.63357	0.0:0.9266:0.0:0.0734	.	912	Q8TF46	DI3L1_HUMAN	L	829;912	ENSP00000321583:S829L;ENSP00000321711:S912L	ENSP00000321583:S829L	S	+	2	0	DIS3L	64412181	0.831000	0.29352	0.975000	0.42487	0.957000	0.61999	1.752000	0.38349	1.381000	0.46364	0.655000	0.94253	TCA		0.363	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2		NM_133375		37	50	0	0	0	0.011902	0	37	50		
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:69238236C>G	ENST00000310673.3	+	2	517	c.363C>G	c.(361-363)ttC>ttG	p.F121L	NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	121					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GTACCCCATTCTGGTCGATCA	0.428																																						uc002arn.1		NaN																	0					0						c.(361-363)TTC>TTG		sperm equatorial segment protein 1 precursor							56.0	57.0	57.0					15																	69238236		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238236C>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.363C>G	15.37:g.69238236C>G	ENSP00000312284:p.Phe121Leu					NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.F121L	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	491	+			121					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.363C>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971216	0.53614	.	.	ENSG00000258484	ENST00000310673	T	0.39056	1.1	5.21	4.3	0.51218	.	0.000000	0.50627	D	0.000119	T	0.51584	0.1683	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53549	-0.8423	10	0.87932	D	0	-13.1245	9.9269	0.41498	0.0:0.906:0.0:0.094	.	121	Q6UW49	SPESP_HUMAN	L	121	ENSP00000312284:F121L	ENSP00000312284:F121L	F	+	3	2	SPESP1	67025290	1.000000	0.71417	0.999000	0.59377	0.198000	0.23893	1.784000	0.38674	1.331000	0.45412	0.655000	0.94253	TTC		0.428	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1		NM_145658		16	18	0	0	0	0.007413	0	16	18		
CYP1A2	1544	broad.mit.edu	37	15	75042806	75042806	+	Missense_Mutation	SNP	C	C	G	rs375045680		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75042806C>G	ENST00000343932.4	+	2	790	c.727C>G	c.(727-729)Cgc>Ggc	p.R243G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	243					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCCCATCCTTCGCTACCTGCC	0.557																																						uc002ayr.1		NaN																	0				ovary(3)|breast(1)	4						c.(727-729)CGC>GGC		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						140.0	137.0	138.0					15																	75042806		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042806C>G	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.727C>G	15.37:g.75042806C>G	ENSP00000342007:p.Arg243Gly						p.R243G	NM_000761	NP_000752	P05177	CP1A2_HUMAN			2	791	+			243					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.727C>G	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512779	0.44660	.	.	ENSG00000140505	ENST00000343932	T	0.69685	-0.42	4.98	3.04	0.35103	.	0.275715	0.42821	D	0.000641	T	0.81034	0.4739	M	0.88031	2.925	0.47659	D	0.999488	D	0.67145	0.996	P	0.58873	0.847	D	0.84542	0.0639	10	0.87932	D	0	.	13.7144	0.62687	0.2883:0.7117:0.0:0.0	.	243	P05177-2	.	G	243	ENSP00000342007:R243G	ENSP00000342007:R243G	R	+	1	0	CYP1A2	72829859	0.272000	0.24172	0.026000	0.17262	0.195000	0.23768	4.654000	0.61469	0.631000	0.30412	0.561000	0.74099	CGC		0.557	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761		43	65	0	0	0	0.01441	0	43	65		
SCAMP5	192683	broad.mit.edu	37	15	75308956	75308956	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75308956G>A	ENST00000361900.6	+	5	366	c.159G>A	c.(157-159)gtG>gtA	p.V53V	SCAMP5_ENST00000425597.3_Silent_p.V53V|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Silent_p.V53V|SCAMP5_ENST00000568081.1_5'Flank|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	53					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CGCTGGCCGTGAACCTGGTGG	0.617																																						uc002azk.1		NaN																	0				ovary(1)	1						c.(157-159)GTG>GTA		secretory carrier membrane protein 5							108.0	110.0	109.0					15																	75308956		2169	4259	6428	SO:0001819	synonymous_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75308956G>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.159G>A	15.37:g.75308956G>A						SCAMP5_uc002azl.1_Silent_p.V53V|SCAMP5_uc002azm.1_Silent_p.V53V|SCAMP5_uc002azn.1_Silent_p.V53V|SCAMP5_uc010uly.1_Intron	p.V53V	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN			4	321	+			53			Helical; (Potential).		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.159G>A	CCDS45306.1																																																																																				0.617	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2		NM_138967		22	64	0	0	0	0.007291	0	22	64		
SNX33	257364	broad.mit.edu	37	15	75942838	75942838	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:75942838C>G	ENST00000308527.5	+	1	2592	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	465	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AGAATGACCTCTTCCAGATGC	0.542																																						uc002bau.2		NaN																	0				ovary(1)	1						c.(1393-1395)CTC>CTG		sorting nexin 33							174.0	154.0	161.0					15																	75942838		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942838C>G	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1395C>G	15.37:g.75942838C>G						IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_Intron	p.L465L	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	1491	+			465			BAR.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.1395C>G	CCDS10283.1																																																																																				0.542	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1		NM_153271		71	118	0	0	0	0.01441	0	71	118		
SCAPER	49855	broad.mit.edu	37	15	76797229	76797229	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:76797229A>G	ENST00000563290.1	-	24	3020	c.2925T>C	c.(2923-2925)aaT>aaC	p.N975N	SCAPER_ENST00000538941.2_Silent_p.N729N|SCAPER_ENST00000324767.7_Silent_p.N975N			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	975						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGTGTTCACATTTGTGGCTG	0.383																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2923-2925)AAT>AAC		S-phase cyclin A-associated protein in the ER							90.0	86.0	87.0					15																	76797229		1854	4094	5948	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76797229A>G	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2925T>C	15.37:g.76797229A>G						SCAPER_uc010bkr.2_Silent_p.N283N|SCAPER_uc002bbx.2_Silent_p.N729N|SCAPER_uc002bbz.1_Silent_p.N846N	p.N975N	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			23	2984	-			974					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.2925T>C	CCDS53962.1																																																																																				0.383	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		13	23	0	0	0	0.006122	0	13	23		
MORF4L1	10933	broad.mit.edu	37	15	79184578	79184578	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:79184578G>A	ENST00000331268.5	+	9	784	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	MORF4L1_ENST00000379535.4_Missense_Mutation_p.E180K|MORF4L1_ENST00000426013.2_Missense_Mutation_p.E155K|MORF4L1_ENST00000558746.1_Missense_Mutation_p.E128K|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.E67K|MORF4L1_ENST00000559345.1_Missense_Mutation_p.E67K	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	194	Interaction with RB1-1.|MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GAACAGAGTTGAAGTTAAAGT	0.388																																						uc002bel.2		NaN																	0					0						c.(580-582)GAA>AAA		MORF-related gene 15 isoform 2							77.0	76.0	76.0					15																	79184578		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79184578G>A	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.580G>A	15.37:g.79184578G>A	ENSP00000331310:p.Glu194Lys					MORF4L1_uc010blj.1_Missense_Mutation_p.E128K|MORF4L1_uc002bem.2_Missense_Mutation_p.E155K|MORF4L1_uc010une.1_Missense_Mutation_p.E67K	p.E194K	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			9	768	+			194			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.|Interaction with RB1-1.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.580G>A	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440537	0.96168	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.44881	0.91;0.91;3.03	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.55017	1.72	0.80722	D	1	P;P;P	0.49961	0.685;0.635;0.93	P;B;P	0.61722	0.479;0.347;0.893	T	0.49560	-0.8927	10	0.27082	T	0.32	-15.0722	17.1079	0.86668	0.0:0.0:1.0:0.0	.	155;155;194	A5D8W6;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	K	180;155;194	ENSP00000368850:E180K;ENSP00000408880:E155K;ENSP00000331310:E194K	ENSP00000331310:E194K	E	+	1	0	MORF4L1	76971633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.607000	0.98328	2.448000	0.82819	0.491000	0.48974	GAA		0.388	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4		NM_006791		18	28	0	0	0	0.004656	0	18	28		
ZFAND6	54469	broad.mit.edu	37	15	80423554	80423554	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:80423554G>A	ENST00000261749.6	+	6	819	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ZFAND6_ENST00000559775.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000559835.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000561060.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000558087.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000559157.1_Missense_Mutation_p.E121K|ZFAND6_ENST00000558494.1_Missense_Mutation_p.E133K|ZFAND6_ENST00000558688.1_Missense_Mutation_p.E133K	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	133					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.E133K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GCAGCCATCTGAAGAGCAAAG	0.388																																						uc002bfe.1		NaN																	1	Substitution - Missense(1)		cervix(1)		0						c.(397-399)GAA>AAA		zinc finger, AN1-type domain 6							110.0	105.0	107.0					15																	80423554		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80423554G>A	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.397G>A	15.37:g.80423554G>A	ENSP00000261749:p.Glu133Lys					ZFAND6_uc002bff.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfg.1_Missense_Mutation_p.E121K|ZFAND6_uc002bfh.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfi.1_Missense_Mutation_p.E133K	p.E133K	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			6	708	+			133					D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.397G>A	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851349	0.91355	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.28	5.28	0.74379	Zinc finger, AN1-type (1);	0.682901	0.13727	N	0.366945	T	0.74068	0.3668	L	0.50333	1.59	0.48571	D	0.999674	P;D	0.63880	0.73;0.993	B;D	0.70935	0.284;0.971	T	0.65734	-0.6096	9	0.14252	T	0.57	.	18.9211	0.92525	0.0:0.0:1.0:0.0	.	121;133	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	K	133	.	ENSP00000261749:E133K	E	+	1	0	ZFAND6	78210609	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.143000	0.64826	2.465000	0.83290	0.591000	0.81541	GAA		0.388	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1		NM_019006		17	93	0	0	0	0.008871	0	17	93		
AKAP13	11214	broad.mit.edu	37	15	86284652	86284652	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:86284652G>C	ENST00000394518.2	+	35	8079	c.7984G>C	c.(7984-7986)Gag>Cag	p.E2662Q	AKAP13_ENST00000394510.2_Missense_Mutation_p.E907Q|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2666Q	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2662	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAACAGCTTGAGAGGGAACA	0.627																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(7984-7986)GAG>CAG		A-kinase anchor protein 13 isoform 2							42.0	40.0	40.0					15																	86284652		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284652G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7984G>C	15.37:g.86284652G>C	ENSP00000378026:p.Glu2662Gln					AKAP13_uc002blu.1_Missense_Mutation_p.E2666Q|AKAP13_uc002blw.1_Missense_Mutation_p.E1127Q|AKAP13_uc002blx.1_Missense_Mutation_p.E907Q	p.E2662Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN			35	8154	+			2662			Interaction with ESR1.|Potential.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7984G>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011128	0.75046	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.29917	1.55;1.55;1.55	5.47	4.55	0.56014	.	.	.	.	.	T	0.57125	0.2032	M	0.82193	2.58	0.38746	D	0.954003	D;D	0.89917	1.0;1.0	D;D	0.71870	0.946;0.975	T	0.67169	-0.5738	9	0.87932	D	0	.	13.3382	0.60530	0.0757:0.0:0.9243:0.0	.	2662;2666	Q12802;Q12802-2	AKP13_HUMAN;.	Q	2666;2662;2665;2641;907	ENSP00000354718:E2666Q;ENSP00000378026:E2662Q;ENSP00000378018:E907Q	ENSP00000354718:E2666Q	E	+	1	0	AKAP13	84085656	1.000000	0.71417	0.447000	0.26932	0.775000	0.43874	7.688000	0.84153	1.298000	0.44778	0.655000	0.94253	GAG		0.627	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		14	24	0	0	0	0.010504	0	14	24		
FANCI	55215	broad.mit.edu	37	15	89834929	89834929	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:89834929C>G	ENST00000310775.7	+	20	2062	c.1976C>G	c.(1975-1977)tCt>tGt	p.S659C	FANCI_ENST00000300027.8_Missense_Mutation_p.S659C	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	659					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GATAAGATCTCTCTACAAGAA	0.378								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(1975-1977)TCT>TGT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							112.0	118.0	116.0					15																	89834929		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89834929C>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1976C>G	15.37:g.89834929C>G	ENSP00000310842:p.Ser659Cys					FANCI_uc002bnm.1_Missense_Mutation_p.S659C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S480C|FANCI_uc002bnq.1_Missense_Mutation_p.S72C	p.S659C	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			20	2066	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		659					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.1976C>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820549	0.32145	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.31510	1.49;1.49;1.49	5.7	-0.291	0.12843	.	0.487104	0.25222	N	0.032221	T	0.24160	0.0585	N	0.22421	0.69	0.80722	D	1	P;P;P	0.50819	0.896;0.939;0.939	P;P;P	0.52424	0.698;0.632;0.632	T	0.04825	-1.0924	10	0.36615	T	0.2	-0.1308	5.6416	0.17567	0.0:0.1394:0.3041:0.5565	.	659;659;659	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	C	659	ENSP00000300027:S659C;ENSP00000310842:S659C;ENSP00000413249:S659C	ENSP00000300027:S659C	S	+	2	0	FANCI	87635933	0.983000	0.35010	0.772000	0.31596	0.999000	0.98932	0.286000	0.18902	-0.265000	0.09352	0.655000	0.94253	TCT		0.378	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		27	55	0	0	0	0.003271	0	27	55		
FANCI	55215	broad.mit.edu	37	15	89850893	89850893	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:89850893C>G	ENST00000310775.7	+	34	3727	c.3641C>G	c.(3640-3642)tCt>tGt	p.S1214C	FANCI_ENST00000300027.8_Missense_Mutation_p.S1154C	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1214					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTTTCATTTCTTACGTACAG	0.443								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(3640-3642)TCT>TGT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							157.0	130.0	139.0					15																	89850893		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89850893C>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3641C>G	15.37:g.89850893C>G	ENSP00000310842:p.Ser1214Cys					FANCI_uc002bnm.1_Missense_Mutation_p.S1154C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S974C|FANCI_uc002bnq.1_Missense_Mutation_p.S627C	p.S1214C	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			34	3731	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1214					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3641C>G	CCDS45346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.952836|3.952836	0.73787|0.73787	.|.	.|.	ENSG00000140525|ENSG00000140525	ENST00000447611|ENST00000300027;ENST00000310775	T|D;D	0.57107|0.84146	0.42|-1.81;-1.81	5.91|5.91	4.99|4.99	0.66335|0.66335	.|.	.|0.102861	.|0.64402	.|D	.|0.000005	D|D	0.83454|0.83454	0.5258|0.5258	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.12013	.|0.005;0.004;0.004	.|B;B;B	.|0.16289	.|0.015;0.006;0.006	T|T	0.79992|0.79992	-0.1569|-0.1569	7|10	0.10377|0.62326	T|D	0.69|0.03	-8.8559|-8.8559	17.2689|17.2689	0.87095|0.87095	0.0:0.8746:0.1253:0.0|0.0:0.8746:0.1253:0.0	.|.	.|1214;1153;1154	.|Q9NVI1;Q9NVI1-2;Q9NVI1-1	.|FANCI_HUMAN;.;.	L|C	1091|1154;1214	ENSP00000413249:F1091L|ENSP00000300027:S1154C;ENSP00000310842:S1214C	ENSP00000413249:F1091L|ENSP00000300027:S1154C	F|S	+|+	3|2	2|0	FANCI|FANCI	87651897|87651897	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.792000|0.792000	0.44763|0.44763	5.766000|5.766000	0.68843|0.68843	1.505000|1.505000	0.48720|0.48720	0.555000|0.555000	0.69702|0.69702	TTC|TCT		0.443	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		23	73	0	0	0	0.007291	0	23	73		
IGF1R	3480	broad.mit.edu	37	15	99459287	99459287	+	Silent	SNP	G	G	C	rs529006369		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:99459287G>C	ENST00000268035.6	+	9	2534	c.1923G>C	c.(1921-1923)ctG>ctC	p.L641L	IGF1R_ENST00000558762.1_Silent_p.L641L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	641	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACGGCAACCTGAGTTACTACA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18169	0.0		0.0	False		,,,				2504	0.001					uc002bul.2		NaN																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(1921-1923)CTG>CTC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						111.0	106.0	108.0					15																	99459287		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99459287G>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1923G>C	15.37:g.99459287G>C						IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L	p.L641L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		9	1973	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		641			Fibronectin type-III 2.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.1923G>C	CCDS10378.1																																																																																				0.557	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875		45	51	0	0	0	0.01441	0	45	51		
LINS	55180	broad.mit.edu	37	15	101109548	101109548	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:101109548G>C	ENST00000314742.8	-	7	2391	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	723										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GCAAACGGCAGATGGCATCTT	0.353																																						uc002bwe.2		NaN																	0					0						c.(2167-2169)ATC>ATG		lines homolog 1							110.0	118.0	115.0					15																	101109548		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101109548G>C	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2169C>G	15.37:g.101109548G>C	ENSP00000318423:p.Ile723Met					LINS1_uc002bwd.2_Missense_Mutation_p.I310M|LINS1_uc002bwf.2_Missense_Mutation_p.I723M|LINS1_uc002bwg.2_Missense_Mutation_p.I723M|LINS1_uc002bwh.2_Missense_Mutation_p.I723M	p.I723M	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	2460	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		723					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.2169C>G	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923034	0.52653	.	.	ENSG00000140471	ENST00000314742	T	0.20069	2.1	5.9	2.39	0.29439	.	0.314453	0.30781	N	0.008884	T	0.37705	0.1013	M	0.66939	2.045	0.37138	D	0.901598	D	0.76494	0.999	D	0.64237	0.923	T	0.33727	-0.9857	10	0.87932	D	0	-9.132	9.0119	0.36146	0.7873:0.0:0.2127:0.0	.	723	Q8NG48	LINES_HUMAN	M	723	ENSP00000318423:I723M	ENSP00000318423:I723M	I	-	3	3	LINS	98927071	0.981000	0.34729	0.004000	0.12327	0.206000	0.24218	2.692000	0.47018	0.162000	0.19483	-0.469000	0.05056	ATC		0.353	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148		37	70	0	0	0	0.010771	0	37	70		
TFAP4	7023	broad.mit.edu	37	16	4310208	4310208	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:4310208C>T	ENST00000204517.6	-	6	1033	c.705G>A	c.(703-705)gtG>gtA	p.V235V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	235	Pro-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTGGCACGATCACCGTGGGGT	0.617																																						uc010uxg.1		NaN																	0				ovary(1)	1						c.(703-705)GTG>GTA		transcription factor AP-4 (activating enhancer							56.0	49.0	51.0					16																	4310208		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310208C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.705G>A	16.37:g.4310208C>T							p.V235V	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			6	959	-			235			Pro-rich.		O60409	Silent	SNP	ENST00000204517.6	37	c.705G>A	CCDS10510.1																																																																																				0.617	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2		NM_003223		11	20	0	0	0	0.00245	0	11	20		
MGRN1	23295	broad.mit.edu	37	16	4721438	4721438	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:4721438A>T	ENST00000399577.5	+	9	866	c.773A>T	c.(772-774)aAc>aTc	p.N258I	MGRN1_ENST00000415496.1_Missense_Mutation_p.N259I|MGRN1_ENST00000262370.7_Missense_Mutation_p.N258I|MGRN1_ENST00000588994.1_Missense_Mutation_p.N258I|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000586183.1_Missense_Mutation_p.N258I	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	258					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GGCATTGAGAACAAGAACAAC	0.587																																						uc002cwz.2		NaN																	0				ovary(1)|skin(1)	2						c.(772-774)AAC>ATC		mahogunin, ring finger 1 isoform 3							93.0	93.0	93.0					16																	4721438		2088	4239	6327	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4721438A>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.773A>T	16.37:g.4721438A>T	ENSP00000382487:p.Asn258Ile					MGRN1_uc002cxa.2_Missense_Mutation_p.N258I|MGRN1_uc010btx.2_Missense_Mutation_p.N259I|MGRN1_uc010btw.2_Missense_Mutation_p.N259I|MGRN1_uc002cxb.2_Missense_Mutation_p.N258I|MGRN1_uc010uxo.1_Missense_Mutation_p.N258I|MGRN1_uc010uxp.1_Missense_Mutation_p.N258I|MGRN1_uc010uxq.1_RNA	p.N258I	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			9	909	+			258					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.773A>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	a	24.7	4.562903	0.86335	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.88979	2.995	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.644;1.0;0.998;1.0	D;D;P;D;D;D	0.97110	0.999;1.0;0.585;0.999;0.984;0.999	T	0.69548	-0.5116	10	0.72032	D	0.01	-49.4858	13.7246	0.62750	1.0:0.0:0.0:0.0	.	258;258;258;259;258;258	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	I	258;258;259;258	ENSP00000262370:N258I;ENSP00000382487:N258I;ENSP00000393311:N259I;ENSP00000443810:N258I	ENSP00000262370:N258I	N	+	2	0	MGRN1	4661439	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.318000	0.96334	1.913000	0.55393	0.456000	0.33151	AAC		0.587	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2				17	35	0	0	0	0.012319	0	17	35		
GRIN2A	2903	broad.mit.edu	37	16	9858060	9858060	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:9858060C>G	ENST00000396573.2	-	14	3650	c.3341G>C	c.(3340-3342)aGa>aCa	p.R1114T	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1114T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R957T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1114T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1114					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATCTTGTCTCTAGGGGAGCT	0.483																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3340-3342)AGA>ACA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						138.0	135.0	136.0					16																	9858060		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858060C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3341G>C	16.37:g.9858060C>G	ENSP00000379818:p.Arg1114Thr					GRIN2A_uc010uym.1_Missense_Mutation_p.R1114T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R957T|GRIN2A_uc002czr.3_Missense_Mutation_p.R1114T	p.R1114T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3889	-			1114			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3341G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027485	0.35797	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11712	2.75;2.75;2.76;2.75;2.75	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.141766	0.64402	D	0.000006	T	0.31606	0.0802	M	0.63428	1.95	0.51767	D	0.999939	B;P;D	0.62365	0.317;0.623;0.991	B;B;D	0.78314	0.164;0.372;0.991	T	0.00609	-1.1646	9	.	.	.	.	18.0195	0.89251	0.0:1.0:0.0:0.0	.	957;1114;1114	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	1114;1114;957;1114;1114	ENSP00000379818:R1114T;ENSP00000385872:R1114T;ENSP00000441572:R957T;ENSP00000332549:R1114T;ENSP00000379820:R1114T	.	R	-	2	0	GRIN2A	9765561	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.602000	0.61098	2.495000	0.84180	0.585000	0.79938	AGA		0.483	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				31	158	0	0	0	0.007835	0	31	158		
GRIN2A	2903	broad.mit.edu	37	16	9916214	9916214	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:9916214C>G	ENST00000396573.2	-	11	2384	c.2075G>C	c.(2074-2076)aGa>aCa	p.R692T	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R692T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R692T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R692T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R535T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R692T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	692					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGAATGTTTCTCTCCGTGCT	0.458																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2074-2076)AGA>ACA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						161.0	137.0	145.0					16																	9916214		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9916214C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2075G>C	16.37:g.9916214C>G	ENSP00000379818:p.Arg692Thr					GRIN2A_uc010uym.1_Missense_Mutation_p.R692T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R535T|GRIN2A_uc002czr.3_Missense_Mutation_p.R692T	p.R692T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			10	2623	-			692			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2075G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072250	0.93950	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	N	0.13272	0.32	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.937;0.981;0.998	T	0.15122	-1.0448	9	.	.	.	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	535;692;692	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	692;692;535;692;692	ENSP00000379818:R692T;ENSP00000385872:R692T;ENSP00000441572:R535T;ENSP00000332549:R692T;ENSP00000379820:R692T	.	R	-	2	0	GRIN2A	9823715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	2.655000	0.90218	0.655000	0.94253	AGA		0.458	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				27	101	0	0	0	0.003271	0	27	101		
CIITA	4261	broad.mit.edu	37	16	10996617	10996617	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:10996617C>G	ENST00000324288.8	+	8	864	c.731C>G	c.(730-732)tCt>tGt	p.S244C	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.S195C	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	244					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGGCAAATCTCTGAGGCTGGA	0.592			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NaN		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(730-732)TCT>TGT		class II transactivator							103.0	97.0	99.0					16																	10996617		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10996617C>G	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.731C>G	16.37:g.10996617C>G	ENSP00000316328:p.Ser244Cys					CIITA_uc002daj.3_Missense_Mutation_p.S245C|CIITA_uc002dak.3_Missense_Mutation_p.S195C|CIITA_uc002dag.2_Missense_Mutation_p.S244C|CIITA_uc002dah.2_Missense_Mutation_p.S196C|CIITA_uc010bup.1_Missense_Mutation_p.S244C	p.S244C	NM_000246	NP_000237	P33076	C2TA_HUMAN			8	864	+			244					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.731C>G	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291875	0.40594	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.77489	-1.1;1.04	4.86	4.86	0.63082	.	0.402896	0.18138	N	0.150492	D	0.86736	0.6004	M	0.69823	2.125	0.23351	N	0.997854	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.999;0.841;0.962;0.979;0.983;0.998	T	0.79132	-0.1929	10	0.87932	D	0	.	13.5057	0.61483	0.0:1.0:0.0:0.0	.	244;195;244;244;196;244	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	C	244;195;196;244	ENSP00000316328:S244C;ENSP00000371257:S195C	ENSP00000316328:S244C	S	+	2	0	CIITA	10904118	0.645000	0.27286	0.699000	0.30290	0.101000	0.19017	1.928000	0.40104	2.238000	0.73509	0.563000	0.77884	TCT		0.592	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		NM_000246		25	46	0	0	0	0.008361	0	25	46		
ABCC6	368	broad.mit.edu	37	16	16297332	16297332	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:16297332G>A	ENST00000205557.7	-	8	962	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TCCCCAGGAGGAAGGTAGAAT	0.592																																						uc002den.3		NaN																	0				skin(2)|ovary(1)	3						c.(931-933)TTC>TTT		ATP-binding cassette, sub-family C, member 6							87.0	78.0	81.0					16																	16297332		2196	4300	6496	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16297332G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.933C>T	16.37:g.16297332G>A						ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.F323F	p.F311F	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	8	970	-			311			ABC transmembrane type-1 1.|Helical; Name=6; (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.933C>T	CCDS10568.1																																																																																				0.592	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2				13	49	0	0	0	0.004007	0	13	49		
ACSM3	6296	broad.mit.edu	37	16	20787320	20787320	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:20787320C>T	ENST00000289416.5	+	3	854	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	ACSM3_ENST00000450120.2_Silent_p.L82L|ACSM3_ENST00000440284.2_Silent_p.L127L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	127					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AATTCTGATTCTGCCCAGGGT	0.463																																						uc002dhr.2		NaN																	0				ovary(1)	1						c.(379-381)CTG>TTG		SA hypertension-associated homolog isoform 1							89.0	91.0	90.0					16																	20787320		2201	4300	6501	SO:0001819	synonymous_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20787320C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.379C>T	16.37:g.20787320C>T						ACSM3_uc002dhq.2_Silent_p.L127L|ACSM3_uc010vba.1_Silent_p.L119L	p.L127L	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			3	566	+			127					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	c.379C>T	CCDS10589.1																																																																																				0.463	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2		NM_005622		19	79	0	0	0	0.004656	0	19	79		
TNRC6A	27327	broad.mit.edu	37	16	24802435	24802435	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:24802435G>C	ENST00000395799.3	+	6	2601	c.2472G>C	c.(2470-2472)gaG>gaC	p.E824D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E824D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	824	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATTGCAAAGAGGAGAAGGCTG	0.507																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(2470-2472)GAG>GAC		trinucleotide repeat containing 6A							49.0	49.0	49.0					16																	24802435		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802435G>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2472G>C	16.37:g.24802435G>C	ENSP00000379144:p.Glu824Asp					TNRC6A_uc010bxs.2_Missense_Mutation_p.E571D|TNRC6A_uc010vcc.1_Missense_Mutation_p.E571D|TNRC6A_uc002dmn.2_Missense_Mutation_p.E571D|TNRC6A_uc002dmo.2_Missense_Mutation_p.E571D	p.E824D	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2586	+			824			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.2472G>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	1.297	-0.605883	0.03717	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12147	2.71;2.72	5.85	-4.54	0.03452	.	0.470065	0.24930	N	0.034462	T	0.06735	0.0172	N	0.26042	0.785	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.19148	0.024;0.002;0.001	T	0.39354	-0.9618	10	0.11182	T	0.66	-7.1447	9.8653	0.41140	0.2424:0.2146:0.5429:0.0	.	571;824;824	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	D	824	ENSP00000326900:E824D;ENSP00000379144:E824D	ENSP00000326900:E824D	E	+	3	2	TNRC6A	24709936	0.006000	0.16342	0.990000	0.47175	0.958000	0.62258	-1.256000	0.02869	-0.431000	0.07307	-0.302000	0.09304	GAG		0.507	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		15	20	0	0	0	0.003163	0	15	20		
IL21R	50615	broad.mit.edu	37	16	27456588	27456588	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:27456588C>T	ENST00000337929.3	+	7	1249	c.776C>T	c.(775-777)cCa>cTa	p.P259L	IL21R_ENST00000395755.1_Missense_Mutation_p.P259L|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Missense_Mutation_p.P259L|IL21R_ENST00000564089.1_Missense_Mutation_p.P259L|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	259					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AAGACCCATCCATTGTGGAGG	0.552			T	BCL6	NHL																																	uc002doq.1		NaN		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(775-777)CCA>CTA		interleukin 21 receptor precursor							80.0	61.0	67.0					16																	27456588		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27456588C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.776C>T	16.37:g.27456588C>T	ENSP00000338010:p.Pro259Leu					IL21R_uc002dor.1_Missense_Mutation_p.P259L|IL21R_uc002dos.1_Missense_Mutation_p.P259L	p.P259L	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			7	1009	+			259			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.776C>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	0.678	-0.799470	0.02841	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.32515	1.45;1.45;1.45	3.17	-0.726	0.11170	.	1.482440	0.04308	N	0.348427	T	0.06005	0.0156	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	10	0.11182	T	0.66	-2.7152	2.239	0.04015	0.4512:0.1594:0.0:0.3894	.	259	Q9HBE5	IL21R_HUMAN	L	259	ENSP00000338010:P259L;ENSP00000379104:P259L;ENSP00000379103:P259L	ENSP00000338010:P259L	P	+	2	0	IL21R	27364089	0.090000	0.21635	0.017000	0.16124	0.037000	0.13140	-0.050000	0.11904	-0.146000	0.11274	0.561000	0.74099	CCA		0.552	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078		12	13	0	0	0	0.00499	0	12	13		
KCTD13	253980	broad.mit.edu	37	16	29918391	29918391	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:29918391C>T	ENST00000568000.1	-	6	1793	c.792G>A	c.(790-792)ctG>ctA	p.L264L		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	264					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						TGAGGATGTTCAGGGTCTCCT	0.672																																						uc002duv.2		NaN																	0					0						c.(790-792)CTG>CTA		potassium channel tetramerisation domain							41.0	41.0	41.0					16																	29918391		2197	4300	6497	SO:0001819	synonymous_variant	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29918391C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.792G>A	16.37:g.29918391C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	p.L264L	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN			6	983	-			264					A8K0R5|Q96P93|Q96SA1	Silent	SNP	ENST00000568000.1	37	c.792G>A	CCDS10661.1																																																																																				0.672	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2		NM_178863		85	33	0	0	0	0.01441	0	85	33		
MAPK3	5595	broad.mit.edu	37	16	30134479	30134479	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30134479C>G	ENST00000263025.4	-	1	136	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	MAPK3_ENST00000395199.3_Missense_Mutation_p.E18Q|MAPK3_ENST00000322266.5_Missense_Mutation_p.E18Q|MAPK3_ENST00000395202.1_Missense_Mutation_p.E18Q|MAPK3_ENST00000395200.1_5'Flank|MAPK3_ENST00000403394.1_Missense_Mutation_p.E18Q|MAPK3_ENST00000484663.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	18					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	CCGACCCCCTCGGTTCTACGG	0.771																																						uc002dws.2		NaN																	0					0						c.(52-54)GAG>CAG		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						8.0	9.0	9.0					16																	30134479		2127	4162	6289	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30134479C>G	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.52G>C	16.37:g.30134479C>G	ENSP00000263025:p.Glu18Gln					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Missense_Mutation_p.E18Q|MAPK3_uc002dwt.2_Missense_Mutation_p.E18Q|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.E18Q	NM_002746	NP_002737	P27361	MK03_HUMAN			1	152	-			18					A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.52G>C	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661383	0.29515	.	.	ENSG00000102882	ENST00000263025;ENST00000322266;ENST00000403394;ENST00000395202;ENST00000395199	T;T;T;T;T	0.76316	-1.01;-0.94;-1.0;-0.94;-1.0	4.08	4.08	0.47627	.	0.777013	0.11986	N	0.510333	T	0.59878	0.2226	N	0.08118	0	0.09310	N	1	B;B;B	0.20368	0.044;0.044;0.026	B;B;B	0.24269	0.052;0.052;0.023	T	0.46162	-0.9211	10	0.24483	T	0.36	-21.8999	11.6316	0.51178	0.0:0.819:0.181:0.0	.	18;18;18	P27361-2;P27361-3;P27361	.;.;MK03_HUMAN	Q	18	ENSP00000263025:E18Q;ENSP00000327293:E18Q;ENSP00000384895:E18Q;ENSP00000378628:E18Q;ENSP00000378625:E18Q	ENSP00000263025:E18Q	E	-	1	0	MAPK3	30041980	0.062000	0.20869	0.063000	0.19743	0.745000	0.42441	1.320000	0.33666	2.288000	0.76882	0.449000	0.29647	GAG		0.771	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2				20	7	0	0	0	0.00278	0	20	7		
ZNF689	115509	broad.mit.edu	37	16	30616102	30616102	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30616102G>T	ENST00000287461.3	-	3	1323	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	329					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CAGGCGAGAGGAGGAGGAGAA	0.701																																						uc002dyx.2		NaN																	0					0						c.(985-987)TCC>TAC		zinc finger protein HIT-39							35.0	30.0	31.0					16																	30616102		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616102G>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.986C>A	16.37:g.30616102G>T	ENSP00000287461:p.Ser329Tyr					ZNF689_uc010bzy.2_5'UTR	p.S329Y	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1306	-			329			C2H2-type 7.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.986C>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	14.45	2.539514	0.45176	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.36699	1.24	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141869	0.33401	N	0.004954	T	0.47097	0.1427	M	0.69358	2.11	0.30474	N	0.773068	D	0.71674	0.998	P	0.61940	0.896	T	0.40701	-0.9549	10	0.07030	T	0.85	-25.4854	9.8673	0.41152	0.0905:0.0:0.9095:0.0	.	329	Q96CS4	ZN689_HUMAN	Y	329	ENSP00000287461:S329Y	ENSP00000287461:S329Y	S	-	2	0	ZNF689	30523603	0.000000	0.05858	0.997000	0.53966	0.613000	0.37349	-0.261000	0.08694	2.868000	0.98415	0.555000	0.69702	TCC		0.701	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1		NM_138447		6	49	1	0	1.58986e-06	0.008291	1.65149e-06	6	49		
RNF40	9810	broad.mit.edu	37	16	30780218	30780218	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30780218G>C	ENST00000324685.6	+	15	2592	c.2157G>C	c.(2155-2157)aaG>aaC	p.K719N	RNF40_ENST00000563683.1_Missense_Mutation_p.K679N|RNF40_ENST00000357890.5_Missense_Mutation_p.K619N|RNF40_ENST00000402121.3_Missense_Mutation_p.K411N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	719					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGAGCAAGAAGATCGCGG	0.592																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(2155-2157)AAG>AAC		ring finger protein 40							80.0	77.0	78.0					16																	30780218		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780218G>C	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2157G>C	16.37:g.30780218G>C	ENSP00000325677:p.Lys719Asn					RNF40_uc010caa.2_Missense_Mutation_p.K719N|RNF40_uc010cab.2_Missense_Mutation_p.K619N|RNF40_uc010vfa.1_Missense_Mutation_p.K51N|RNF40_uc002dzr.2_Missense_Mutation_p.K719N|RNF40_uc010vfb.1_Missense_Mutation_p.K411N|RNF40_uc010vfc.1_Missense_Mutation_p.K51N	p.K719N	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		15	2280	+			719			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2157G>C	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989863	0.74589	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.35048	1.33;1.34;1.35	5.87	4.92	0.64577	.	0.046765	0.85682	D	0.000000	T	0.62024	0.2394	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.995;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.908;0.962;0.994;0.999;0.997	T	0.67749	-0.5590	10	0.72032	D	0.01	-50.4991	14.0824	0.64932	0.0735:0.0:0.9265:0.0	.	51;411;619;719;719	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	N	719;619;411;51	ENSP00000325677:K719N;ENSP00000350563:K619N;ENSP00000384942:K411N	ENSP00000325677:K719N	K	+	3	2	RNF40	30687719	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.485000	0.45250	1.487000	0.48415	0.655000	0.94253	AAG		0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		122	60	0	0	0	0.01441	0	122	60		
PYDC1	260434	broad.mit.edu	37	16	31226097	31226097	+	IGR	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:31226097C>G	ENST00000302964.3	-	0	813				TRIM72_ENST00000322122.3_Missense_Mutation_p.S13C|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGGAGCTGTCCTGCCCGCTG	0.756																																						uc002ebn.1		NaN																	0					0						c.(37-39)TCC>TGC		tripartite motif-containing 72							5.0	6.0	6.0					16																	31226097		2029	3999	6028	SO:0001628	intergenic_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31226097C>G		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31226097C>G							p.S13C	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			2	267	+			13					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.38C>G	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185570	0.78677	.	.	ENSG00000177238	ENST00000322122	D	0.84589	-1.87	4.8	4.8	0.61643	Zinc finger, RING/FYVE/PHD-type (1);	0.094954	0.46442	D	0.000292	D	0.87676	0.6237	L	0.33624	1.015	0.36505	D	0.869253	D	0.89917	1.0	D	0.76071	0.987	D	0.90618	0.4557	10	0.72032	D	0.01	.	13.4227	0.61007	0.0:0.8411:0.1589:0.0	.	13	Q6ZMU5	TRI72_HUMAN	C	13	ENSP00000312675:S13C	ENSP00000312675:S13C	S	+	2	0	TRIM72	31133598	0.000000	0.05858	1.000000	0.80357	0.869000	0.49853	0.082000	0.14847	2.384000	0.81235	0.561000	0.74099	TCC		0.756	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2		NM_152901		8	15	0	0	0	0.013537	0	8	15		
GPR56	9289	broad.mit.edu	37	16	57693505	57693505	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693505C>G	ENST00000388812.4	+	11	1925	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	GPR56_ENST00000567835.1_Silent_p.L495L|GPR56_ENST00000568909.1_Silent_p.L495L|GPR56_ENST00000562558.1_Silent_p.L489L|GPR56_ENST00000544297.1_Silent_p.L314L|GPR56_ENST00000538815.1_Silent_p.L489L|GPR56_ENST00000456916.1_Silent_p.L495L|GPR56_ENST00000540164.2_Silent_p.L489L|GPR56_ENST00000388813.5_Silent_p.L489L|GPR56_ENST00000568908.1_Silent_p.L489L|GPR56_ENST00000562631.1_Silent_p.L489L|GPR56_ENST00000379694.4_Silent_p.L325L|GPR56_ENST00000379696.3_Silent_p.L495L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	495					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGATGGGCCTCGAGGGGTACA	0.622																																						uc002emb.2		NaN																	0					0						c.(1483-1485)CTC>CTG		G protein-coupled receptor 56 isoform a							103.0	95.0	98.0					16																	57693505		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693505C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1485C>G	16.37:g.57693505C>G						GPR56_uc002elz.1_Silent_p.L325L|GPR56_uc002ema.1_Silent_p.L320L|GPR56_uc002emc.2_Silent_p.L489L|GPR56_uc002emf.2_Silent_p.L489L|GPR56_uc010vhs.1_Silent_p.L495L|GPR56_uc002emd.2_Silent_p.L489L|GPR56_uc002eme.2_Silent_p.L489L|GPR56_uc010vht.1_Silent_p.L494L|GPR56_uc002emg.3_Silent_p.L489L|GPR56_uc010vhu.1_Silent_p.L314L	p.L495L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			12	1777	+			495			Helical; Name=3; (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1485C>G	CCDS32460.1																																																																																				0.622	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				27	75	0	0	0	0.00623	0	27	75		
GPR56	9289	broad.mit.edu	37	16	57693541	57693541	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693541C>G	ENST00000388812.4	+	11	1961	c.1521C>G	c.(1519-1521)gtC>gtG	p.V507V	GPR56_ENST00000567835.1_Silent_p.V507V|GPR56_ENST00000568909.1_Silent_p.V507V|GPR56_ENST00000562558.1_Silent_p.V501V|GPR56_ENST00000544297.1_Silent_p.V326V|GPR56_ENST00000538815.1_Silent_p.V501V|GPR56_ENST00000456916.1_Silent_p.V507V|GPR56_ENST00000540164.2_Silent_p.V501V|GPR56_ENST00000388813.5_Silent_p.V501V|GPR56_ENST00000568908.1_Silent_p.V501V|GPR56_ENST00000562631.1_Silent_p.V501V|GPR56_ENST00000379694.4_Silent_p.V337V|GPR56_ENST00000379696.3_Silent_p.V507V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	507					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGGAGGTCTTTGGCACCT	0.627																																						uc002emb.2		NaN																	0					0						c.(1519-1521)GTC>GTG		G protein-coupled receptor 56 isoform a							94.0	91.0	92.0					16																	57693541		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693541C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1521C>G	16.37:g.57693541C>G						GPR56_uc002elz.1_Silent_p.V337V|GPR56_uc002ema.1_Silent_p.V332V|GPR56_uc002emc.2_Silent_p.V501V|GPR56_uc002emf.2_Silent_p.V501V|GPR56_uc010vhs.1_Silent_p.V507V|GPR56_uc002emd.2_Silent_p.V501V|GPR56_uc002eme.2_Silent_p.V501V|GPR56_uc010vht.1_Silent_p.V506V|GPR56_uc002emg.3_Silent_p.V501V|GPR56_uc010vhu.1_Silent_p.V326V	p.V507V	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			12	1813	+			507			Cytoplasmic (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1521C>G	CCDS32460.1																																																																																				0.627	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				19	87	0	0	0	0.006999	0	19	87		
GPR56	9289	broad.mit.edu	37	16	57693571	57693571	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:57693571C>G	ENST00000388812.4	+	11	1991	c.1551C>G	c.(1549-1551)ctC>ctG	p.L517L	GPR56_ENST00000567835.1_Silent_p.L517L|GPR56_ENST00000568909.1_Silent_p.L517L|GPR56_ENST00000562558.1_Silent_p.L511L|GPR56_ENST00000544297.1_Silent_p.L336L|GPR56_ENST00000538815.1_Silent_p.L511L|GPR56_ENST00000456916.1_Silent_p.L517L|GPR56_ENST00000540164.2_Silent_p.L511L|GPR56_ENST00000388813.5_Silent_p.L511L|GPR56_ENST00000568908.1_Silent_p.L511L|GPR56_ENST00000562631.1_Silent_p.L511L|GPR56_ENST00000379694.4_Silent_p.L347L|GPR56_ENST00000379696.3_Silent_p.L517L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	517					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCTACCTACTCAAGCTGAGCG	0.622																																						uc002emb.2		NaN																	0					0						c.(1549-1551)CTC>CTG		G protein-coupled receptor 56 isoform a							74.0	76.0	75.0					16																	57693571		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57693571C>G	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1551C>G	16.37:g.57693571C>G						GPR56_uc002elz.1_Silent_p.L347L|GPR56_uc002ema.1_Silent_p.L342L|GPR56_uc002emc.2_Silent_p.L511L|GPR56_uc002emf.2_Silent_p.L511L|GPR56_uc010vhs.1_Silent_p.L517L|GPR56_uc002emd.2_Silent_p.L511L|GPR56_uc002eme.2_Silent_p.L511L|GPR56_uc010vht.1_Silent_p.L516L|GPR56_uc002emg.3_Silent_p.L511L|GPR56_uc010vhu.1_Silent_p.L336L	p.L517L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			12	1843	+			517			Cytoplasmic (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1551C>G	CCDS32460.1																																																																																				0.622	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				14	83	0	0	0	0.00632	0	14	83		
CDH1	999	broad.mit.edu	37	16	68844139	68844139	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:68844139G>C	ENST00000261769.5	+	6	918	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.E243Q	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	243	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.E243*(2)|p.E243K(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGCAGTTGAGGATCCAAT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		7	Unknown(4)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.E243*(2)|p.?(2)	breast(7)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(727-729)GAG>CAG		cadherin 1, type 1 preproprotein							161.0	149.0	153.0					16																	68844139		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844139G>C	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.727G>C	16.37:g.68844139G>C	ENSP00000261769:p.Glu243Gln					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E243Q	p.E243Q	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	851	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	243			Cadherin 1.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.727G>C	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475678	0.63737	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53857	0.6;0.6	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000129	T	0.72692	0.3492	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.87578	0.899;0.998	T	0.75625	-0.3253	10	0.87932	D	0	.	17.9295	0.88992	0.0:0.0:1.0:0.0	.	243;243	Q9UII8;P12830	.;CADH1_HUMAN	Q	243	ENSP00000261769:E243Q;ENSP00000414946:E243Q	ENSP00000261769:E243Q	E	+	1	0	CDH1	67401640	1.000000	0.71417	0.566000	0.28421	0.030000	0.12068	9.476000	0.97823	2.592000	0.87571	0.557000	0.71058	GAG		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		63	89	0	0	0	0.01441	0	63	89		
CDH1	999	broad.mit.edu	37	16	68845691	68845691	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:68845691G>A	ENST00000261769.5	+	7	1128	c.937G>A	c.(937-939)Gac>Aac	p.D313N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D313N|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	313	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAGCTCCCTGACAAAAATAT	0.542			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		1	Unknown(1)		breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(937-939)GAC>AAC		cadherin 1, type 1 preproprotein							115.0	98.0	104.0					16																	68845691		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68845691G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.937G>A	16.37:g.68845691G>A	ENSP00000261769:p.Asp313Asn					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D313N	p.D313N	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	7	1061	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	313			Cadherin 2.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.937G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	1.243	-0.620724	0.03636	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.63580	-0.05;-0.05	5.19	-5.15	0.02866	Cadherin (4);Cadherin-like (1);	1.157960	0.06360	N	0.711572	T	0.27524	0.0676	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11916	-1.0568	10	0.27082	T	0.32	.	5.0878	0.14693	0.1919:0.2172:0.4712:0.1197	.	313;313	Q9UII8;P12830	.;CADH1_HUMAN	N	313	ENSP00000261769:D313N;ENSP00000414946:D313N	ENSP00000261769:D313N	D	+	1	0	CDH1	67403192	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.228000	0.17814	-1.252000	0.02491	-1.581000	0.00855	GAC		0.542	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		23	37	0	0	0	0.004656	0	23	37		
GLG1	2734	broad.mit.edu	37	16	74493622	74493622	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:74493622G>C	ENST00000422840.2	-	23	3101	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	GLG1_ENST00000205061.5_Silent_p.L1034L|GLG1_ENST00000447066.2_Silent_p.L1023L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1034					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GGTTGACCTTGAGGCACTCCT	0.438																																						uc002fcy.3		NaN																	0				ovary(1)|breast(1)	2						c.(3100-3102)CTC>CTG		golgi apparatus protein 1 isoform 3							145.0	119.0	128.0					16																	74493622		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74493622G>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3102C>G	16.37:g.74493622G>C						GLG1_uc002fcx.2_Silent_p.L1034L|GLG1_uc002fcw.3_Silent_p.L1023L|GLG1_uc002fcz.3_Silent_p.L451L	p.L1034L	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			23	3152	-			1034			Extracellular (Potential).|Cys-rich GLG1 15.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.3102C>G	CCDS45527.1																																																																																				0.438	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1		NM_012201		12	22	0	0	0	0.004007	0	12	22		
JPH3	57338	broad.mit.edu	37	16	87677915	87677915	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:87677915G>A	ENST00000284262.2	+	2	676	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	145					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TACGGCGTCCGGCAGAGCGTC	0.677																																						uc002fkd.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(433-435)CGG>CAG		junctophilin 3							50.0	52.0	51.0					16																	87677915		2198	4298	6496	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87677915G>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.434G>A	16.37:g.87677915G>A	ENSP00000284262:p.Arg145Gln					JPH3_uc010vou.1_RNA	p.R145Q	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	688	+			145			MORN 6.|Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.434G>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170618	0.94807	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.54866	0.55	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74503	-0.3644	10	0.54805	T	0.06	.	17.0497	0.86515	0.0:0.0:1.0:0.0	.	145	Q8WXH2	JPH3_HUMAN	Q	8;145	ENSP00000284262:R145Q	ENSP00000284262:R145Q	R	+	2	0	JPH3	86235416	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.518000	0.98022	2.334000	0.79466	0.462000	0.41574	CGG		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2				39	38	0	0	0	0.01441	0	39	38		
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					uc010cje.2		NaN																	0				ovary(1)	1						c.(1159-1161)ATG>CTG		PR domain containing 7 isoform 1		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L	p.M387L	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1179	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1				3	80	0	0	0	0.004672	0	3	80		
ZNF232	7775	broad.mit.edu	37	17	5009120	5009120	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009120C>G	ENST00000250076.3	-	5	1988	c.1334G>C	c.(1333-1335)tGa>tCa	p.*445S	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Nonstop_Mutation_p.*436S	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCCTTCAATTCAATGGGAAGG	0.403																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1252-1254)TGA>TCA		zinc finger protein 232							78.0	80.0	79.0					17																	5009120		2203	4299	6502	SO:0001578	stop_lost	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009120C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1334G>C	17.37:g.5009120C>G						ZNF232_uc002gar.1_Nonstop_Mutation_p.*436S|ZNF232_uc002gat.2_Nonstop_Mutation_p.*445S	p.*418S	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	2007	-			418						Nonstop_Mutation	SNP	ENST00000250076.3	37	c.1253G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644423	0.00792	.	.	ENSG00000167840	ENST00000250076	.	.	.	2.7	-0.553	0.11815	.	.	.	.	.	.	.	.	.	.	.	0.24625	N	0.993656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3546	0.11172	0.0:0.5637:0.191:0.2453	.	.	.	.	S	445	.	.	X	-	2	2	ZNF232	4949844	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.050000	0.30404	-0.084000	0.12595	-0.266000	0.10368	TGA		0.403	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		36	22	0	0	0	0.010771	0	36	22		
ZNF232	7775	broad.mit.edu	37	17	5009220	5009220	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009220C>G	ENST00000250076.3	-	5	1888	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Missense_Mutation_p.E403Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	385					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						AAAGGTTTCTCTCCACTGTGA	0.443																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1153-1155)GAG>CAG		zinc finger protein 232							93.0	95.0	94.0					17																	5009220		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009220C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1234G>C	17.37:g.5009220C>G	ENSP00000250076:p.Glu412Gln					ZNF232_uc002gar.1_Missense_Mutation_p.E403Q|ZNF232_uc002gat.2_Missense_Mutation_p.E412Q	p.E385Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1907	-			385						Missense_Mutation	SNP	ENST00000250076.3	37	c.1153G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976039	0.53720	.	.	ENSG00000167840	ENST00000250076	T	0.25912	1.77	2.84	2.84	0.33178	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32785	N	0.005656	T	0.39937	0.1097	L	0.58810	1.83	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.59487	0.858;0.778	T	0.39683	-0.9602	10	0.87932	D	0	.	11.8823	0.52581	0.0:1.0:0.0:0.0	.	385;376	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	Q	412	ENSP00000250076:E412Q	ENSP00000250076:E412Q	E	-	1	0	ZNF232	4949944	0.872000	0.30054	0.979000	0.43373	0.979000	0.70002	2.703000	0.47110	1.872000	0.54250	0.655000	0.94253	GAG		0.443	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		25	20	0	0	0	0.009535	0	25	20		
ZNF232	7775	broad.mit.edu	37	17	5009367	5009367	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009367C>G	ENST00000250076.3	-	5	1741	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Missense_Mutation_p.E354Q|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	336					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCCCACATTCATTACATTCG	0.463																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1006-1008)GAA>CAA		zinc finger protein 232							92.0	94.0	93.0					17																	5009367		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009367C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1087G>C	17.37:g.5009367C>G	ENSP00000250076:p.Glu363Gln					ZNF232_uc002gar.1_Missense_Mutation_p.E354Q|ZNF232_uc002gat.2_Missense_Mutation_p.E363Q	p.E336Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1760	-			336			C2H2-type 3.			Missense_Mutation	SNP	ENST00000250076.3	37	c.1006G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330413	0.24167	.	.	ENSG00000167840	ENST00000250076	T	0.07444	3.19	2.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255392	0.20519	N	0.090740	T	0.05686	0.0149	N	0.20530	0.585	0.09310	N	0.999999	B;B	0.13145	0.005;0.007	B;B	0.08055	0.003;0.003	T	0.33497	-0.9866	10	0.51188	T	0.08	.	9.7563	0.40504	0.0:0.7861:0.2139:0.0	.	336;327	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	Q	363	ENSP00000250076:E363Q	ENSP00000250076:E363Q	E	-	1	0	ZNF232	4950091	0.000000	0.05858	0.001000	0.08648	0.599000	0.36880	0.137000	0.15995	0.721000	0.32231	0.655000	0.94253	GAA		0.463	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		19	26	0	0	0	0.010504	0	19	26		
ZNF232	7775	broad.mit.edu	37	17	5009634	5009634	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5009634C>T	ENST00000250076.3	-	5	1474	c.820G>A	c.(820-822)Gag>Aag	p.E274K	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Missense_Mutation_p.E265K|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	247					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CTCAGTCTCTCCGCTTTGGGA	0.478																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(739-741)GAG>AAG		zinc finger protein 232							102.0	101.0	101.0					17																	5009634		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009634C>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.820G>A	17.37:g.5009634C>T	ENSP00000250076:p.Glu274Lys					ZNF232_uc002gar.1_Missense_Mutation_p.E265K|ZNF232_uc002gat.2_Missense_Mutation_p.E274K	p.E247K	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1493	-			247						Missense_Mutation	SNP	ENST00000250076.3	37	c.739G>A	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345150	0.41498	.	.	ENSG00000167840	ENST00000250076	T	0.07567	3.18	2.99	-0.12	0.13539	.	0.542706	0.13758	N	0.364823	T	0.05181	0.0138	N	0.20445	0.575	0.42686	D	0.993566	B;B	0.11235	0.001;0.004	B;B	0.12156	0.002;0.007	T	0.32877	-0.9890	10	0.41790	T	0.15	.	7.1569	0.25643	0.0:0.6735:0.0:0.3265	.	247;238	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	K	274	ENSP00000250076:E274K	ENSP00000250076:E274K	E	-	1	0	ZNF232	4950358	0.027000	0.19231	0.000000	0.03702	0.579000	0.36224	0.345000	0.19979	0.009000	0.14813	0.655000	0.94253	GAG		0.478	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		38	28	0	0	0	0.013114	0	38	28		
NUP88	4927	broad.mit.edu	37	17	5324736	5324736	+	5'Flank	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:5324736G>A	ENST00000573584.1	-	0	0				RPAIN_ENST00000536255.2_Missense_Mutation_p.E68K|RPAIN_ENST00000381208.5_Missense_Mutation_p.E68K|RPAIN_ENST00000405578.4_Missense_Mutation_p.E68K|RPAIN_ENST00000327154.6_Missense_Mutation_p.E68K|RPAIN_ENST00000574003.1_Missense_Mutation_p.E68K|RPAIN_ENST00000381209.3_Missense_Mutation_p.E68K	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|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)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GATGGAAGAAGAGTGGAATGC	0.532																																						uc002gbq.2		NaN																	0					0						c.(202-204)GAG>AAG		RPA interacting protein isoform b							99.0	87.0	91.0					17																	5324736		2203	4300	6503	SO:0001631	upstream_gene_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5324736G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453		17.37:g.5324736G>A	Exception_encountered					NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.E68K|RPAIN_uc002gbp.1_Missense_Mutation_p.R121K|RPAIN_uc010vta.1_Missense_Mutation_p.E68K|RPAIN_uc010vtb.1_Missense_Mutation_p.E68K|RPAIN_uc002gbs.2_Missense_Mutation_p.R121K|RPAIN_uc002gbt.2_Missense_Mutation_p.E68K|RPAIN_uc002gbu.2_Missense_Mutation_p.R121K|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.E68K	p.E68K	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			2	772	+			68					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.202G>A	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254228	0.95336	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000539417;ENST00000536255;ENST00000405578;ENST00000540734;ENST00000327154	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.32	5.32	0.75619	.	0.045219	0.85682	D	0.000000	D	0.85600	0.5734	M	0.82323	2.585	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.998;0.998	D	0.87177	0.2225	10	0.87932	D	0	-32.4025	17.813	0.88622	0.0:0.0:1.0:0.0	.	68;68;68;68;68;68	F5GYE1;F5H3Q7;E9PES3;Q86UA6-6;E9PDG9;Q86UA6	.;.;.;.;.;RIP_HUMAN	K	68	ENSP00000370606:E68K;ENSP00000370605:E68K;ENSP00000446453:E68K;ENSP00000439939:E68K;ENSP00000385814:E68K;ENSP00000315069:E68K	ENSP00000315069:E68K	E	+	1	0	RPAIN	5265460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.573000	0.74009	2.793000	0.96121	0.558000	0.71614	GAG		0.532	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3		NM_002532		31	21	0	0	0	0.007835	0	31	21		
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000420246.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R280K	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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		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		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)AGA>AAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		2203	4300	6503	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.chr17:7577099C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys	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.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K	p.R280K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (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	SNP	ENST00000269305.4	37	c.839G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		12	9	0	0	0	0.001855	0	12	9		
DNAH2	146754	broad.mit.edu	37	17	7643069	7643069	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:7643069C>T	ENST00000572933.1	+	9	2649	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	DNAH2_ENST00000570791.1_Missense_Mutation_p.H479Y|DNAH2_ENST00000389173.2_Missense_Mutation_p.H397Y|DNAH2_ENST00000082259.3_Missense_Mutation_p.H479Y			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	397	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTCAGTATCACTTCGCCCG	0.488																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1189-1191)CAC>TAC		dynein heavy chain domain 3							73.0	66.0	68.0					17																	7643069		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643069C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1189C>T	17.37:g.7643069C>T	ENSP00000458355:p.His397Tyr					DNAH2_uc002git.2_Missense_Mutation_p.H479Y|DNAH2_uc010vuk.1_Missense_Mutation_p.H397Y	p.H397Y	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			8	1203	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	397			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1189C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136765	0.77662	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.54279	1.89;0.58	5.02	5.02	0.67125	.	0.064999	0.64402	D	0.000005	T	0.63581	0.2523	L	0.40543	1.245	0.34260	D	0.679821	D;D	0.58970	0.984;0.978	P;D	0.63488	0.824;0.915	T	0.71163	-0.4673	10	0.54805	T	0.06	.	17.6301	0.88104	0.0:1.0:0.0:0.0	.	397;479	Q9P225;Q9P225-3	DYH2_HUMAN;.	Y	397;397;479	ENSP00000373825:H397Y;ENSP00000082259:H479Y	ENSP00000082259:H479Y	H	+	1	0	DNAH2	7583794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.512000	0.73737	2.779000	0.95612	0.650000	0.86243	CAC		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		10	5	0	0	0	0.008291	0	10	5		
KRBA2	124751	broad.mit.edu	37	17	8272483	8272483	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:8272483G>C	ENST00000331336.2	-	2	1453	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Nonsense_Mutation_p.S401*|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	483					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGTCCCTTGTGAGGTGCTGGG	0.527																																						uc002glf.1		NaN																	0					0						c.(1447-1449)TCA>TGA		KRAB-A domain containing 2							112.0	101.0	105.0					17																	8272483		2203	4300	6503	SO:0001587	stop_gained	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272483G>C	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1448C>G	17.37:g.8272483G>C	ENSP00000328017:p.Ser483*					KRBA2_uc002glg.1_Nonsense_Mutation_p.S400*	p.S483*	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	1454	-			483					Q8IYY0	Nonsense_Mutation	SNP	ENST00000331336.2	37	c.1448C>G	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.879445	0.51801	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	.	.	.	2.56	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.34565	D	0.712764	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.6353	0.12521	0.1962:0.0:0.8038:0.0	.	.	.	.	X	401;483	.	ENSP00000328017:S483X	S	-	2	0	KRBA2	8213208	0.836000	0.29430	0.619000	0.29118	0.100000	0.18952	0.831000	0.27476	0.602000	0.29896	0.650000	0.86243	TCA		0.527	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1		NM_213597		17	15	0	0	0	0.010504	0	17	15		
MYH10	4628	broad.mit.edu	37	17	8422065	8422065	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:8422065C>G	ENST00000269243.4	-	19	2433	c.2295G>C	c.(2293-2295)caG>caC	p.Q765H	MYH10_ENST00000360416.3_Missense_Mutation_p.Q796H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q786H|MYH10_ENST00000379980.4_Missense_Mutation_p.Q781H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	765	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATATCTTGCTCTGTCCAATTC	0.358																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(2293-2295)CAG>CAC		myosin, heavy polypeptide 10, non-muscle							83.0	81.0	82.0					17																	8422065		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8422065C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2295G>C	17.37:g.8422065C>G	ENSP00000269243:p.Gln765His					MYH10_uc002glm.2_Missense_Mutation_p.Q796H|MYH10_uc010cnx.2_Missense_Mutation_p.Q774H	p.Q765H	NM_005964	NP_005955	P35580	MYH10_HUMAN			19	2391	-			765			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2295G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217442	0.58560	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.96	1.94	0.25998	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	N	0.25245	0.725	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75484	0.969;0.986;0.969	T	0.78658	-0.2118	10	0.02654	T	1	.	9.8634	0.41129	0.0:0.7802:0.0:0.2198	.	774;796;765	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	H	765;796;786;781	ENSP00000269243:Q765H;ENSP00000353590:Q796H;ENSP00000379539:Q786H;ENSP00000369315:Q781H	ENSP00000269243:Q765H	Q	-	3	2	MYH10	8362790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.187000	0.32090	0.301000	0.22738	0.650000	0.86243	CAG		0.358	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				22	21	0	0	0	0.009535	0	22	21		
MYH3	4621	broad.mit.edu	37	17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:10543493G>T	ENST00000583535.1	-	22	2589	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	834					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458																																						uc002gmq.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2500-2502)TTC>TTA		myosin, heavy chain 3, skeletal muscle,							134.0	125.0	128.0					17																	10543493		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543493G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2502C>A	17.37:g.10543493G>T	ENSP00000464317:p.Phe834Leu						p.F834L	NM_002470	NP_002461	P11055	MYH3_HUMAN			21	2579	-			834					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2502C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790311	0.50102	.	.	ENSG00000109063	ENST00000226209	D	0.92699	-3.09	5.4	-0.308	0.12773	.	.	.	.	.	D	0.90045	0.6891	M	0.67953	2.075	0.37142	D	0.901746	B	0.22146	0.065	B	0.30943	0.122	D	0.85123	0.0970	9	0.48119	T	0.1	.	10.542	0.45039	0.3499:0.0:0.6501:0.0	.	834	P11055	MYH3_HUMAN	L	834	ENSP00000226209:F834L	ENSP00000226209:F834L	F	-	3	2	MYH3	10484218	0.999000	0.42202	0.971000	0.41717	0.986000	0.74619	2.231000	0.43009	0.042000	0.15717	0.561000	0.74099	TTC		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		29	31	1	0	2.85442e-18	0.010818	3.0971e-18	29	31		
MPRIP	23164	broad.mit.edu	37	17	17083324	17083324	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:17083324G>A	ENST00000341712.4	+	22	2967	c.2967G>A	c.(2965-2967)atG>atA	p.M989I	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.M951I|MPRIP_ENST00000395804.3_Missense_Mutation_p.M989I|RN7SL775P_ENST00000498361.2_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.M989I			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	989						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGATATAATGAAATCTAAAA	0.443																																						uc002gqu.1		NaN																	0					0						c.(2965-2967)ATG>ATA		myosin phosphatase-Rho interacting protein							68.0	70.0	69.0					17																	17083324		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17083324G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2967G>A	17.37:g.17083324G>A	ENSP00000342379:p.Met989Ile					MPRIP_uc002gqv.1_Missense_Mutation_p.M989I|MPRIP_uc002gqw.1_Missense_Mutation_p.M744I|MPRIP_uc002gqx.1_Missense_Mutation_p.M1218I|MPRIP_uc002gqy.1_Missense_Mutation_p.M1218I|MPRIP_uc010cpl.1_Missense_Mutation_p.M175I|MPRIP_uc010cpm.1_Missense_Mutation_p.M175I	p.M989I	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			22	3023	+			989					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2967G>A	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.917892|4.917892	0.92249|0.92249	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000313485|ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184	.|T;T;T;T	.|0.26810	.|1.71;2.01;2.03;2.03	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.137871	.|0.64402	.|D	.|0.000010	T|T	0.51244|0.51244	0.1663|0.1663	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	.|P;D;D;D;D	.|0.71674	.|0.936;0.986;0.998;0.988;0.969	.|P;D;D;D;D	.|0.80764	.|0.885;0.974;0.994;0.961;0.914	T|T	0.51371|0.51371	-0.8714|-0.8714	5|10	.|0.87932	.|D	.|0	-24.3312|-24.3312	19.4064|19.4064	0.94649|0.94649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|988;951;1353;989;989	.|B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.|.;.;.;.;MPRIP_HUMAN	K|I	1354|951;989;989;989;145	.|ENSP00000400189:M951I;ENSP00000379156:M989I;ENSP00000379149:M989I;ENSP00000342379:M989I	.|ENSP00000342379:M989I	E|M	+|+	1|3	0|0	MPRIP|MPRIP	17024049|17024049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.807000|9.807000	0.99171|0.99171	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.443	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1		NM_015134		18	13	0	0	0	0.010504	0	18	13		
SUPT6H	6830	broad.mit.edu	37	17	27030629	27030629	+	IGR	SNP	T	T	C	rs576382866|rs202051742	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:27030629T>C	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000301039.2_Missense_Mutation_p.R320G|PROCA1_ENST00000439862.3_Missense_Mutation_p.R322G	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTTACCTTCCTGGCTTGTGAG	0.532																																						uc002hcb.3		NaN																	0				ovary(1)	1						c.(964-966)AGG>GGG		protein interacting with cyclin A1							115.0	114.0	114.0					17																	27030629		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030629T>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030629T>C						PROCA1_uc010crv.2_Missense_Mutation_p.R248G|PROCA1_uc002hca.1_Missense_Mutation_p.R320G	p.R322G	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN			5	1167	-	Lung NSC(42;0.00431)		348					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.964A>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675901	0.47886	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.06068	3.35;3.35	4.63	3.52	0.40303	.	0.911681	0.09253	N	0.827625	T	0.04998	0.0134	N	0.14661	0.345	0.29318	N	0.867569	P;P;P	0.43094	0.799;0.763;0.763	B;B;B	0.39840	0.214;0.311;0.311	T	0.31724	-0.9933	10	0.87932	D	0	-16.2841	8.4825	0.33052	0.0:0.0:0.2073:0.7927	.	348;322;320	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	G	320;322;348	ENSP00000301039:R320G;ENSP00000411400:R322G	ENSP00000301039:R320G	R	-	1	2	PROCA1	24054756	0.976000	0.34144	0.851000	0.33527	0.794000	0.44872	2.641000	0.46587	0.840000	0.34995	0.533000	0.62120	AGG		0.532	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		58	101	0	0	0	0.01441	0	58	101		
ATAD5	79915	broad.mit.edu	37	17	29196272	29196272	+	Missense_Mutation	SNP	C	C	T	rs552886395		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:29196272C>T	ENST00000321990.4	+	13	3698	c.3320C>T	c.(3319-3321)tCg>tTg	p.S1107L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1107					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCAGATTTCTCGGGTGGCATA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20440	0.0		0.0	False		,,,				2504	0.001					uc002hfs.1		NaN																	0				ovary(3)	3						c.(3319-3321)TCG>TTG		ATPase family, AAA domain containing 5							91.0	90.0	90.0					17																	29196272		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196272C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3320C>T	17.37:g.29196272C>T	ENSP00000313171:p.Ser1107Leu					ATAD5_uc002hft.1_Missense_Mutation_p.S1004L	p.S1107L	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			13	3666	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1107					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3320C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065846	0.20067	.	.	ENSG00000176208	ENST00000321990	T	0.05996	3.36	5.62	-2.53	0.06326	.	0.923063	0.09235	N	0.830091	T	0.01870	0.0059	N	0.00885	-1.115	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.003	T	0.48843	-0.8999	10	0.22706	T	0.39	.	8.4523	0.32877	0.0:0.3824:0.103:0.5146	.	1107;1107	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	L	1107	ENSP00000313171:S1107L	ENSP00000313171:S1107L	S	+	2	0	ATAD5	26220398	0.005000	0.15991	0.000000	0.03702	0.048000	0.14542	-0.101000	0.10973	-0.694000	0.05113	-1.500000	0.00958	TCG		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		21	39	0	0	0	0.005443	0	21	39		
LRRC37B	114659	broad.mit.edu	37	17	30348940	30348940	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:30348940C>G	ENST00000341671.7	+	1	780	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	LRRC37B_ENST00000327564.7_Missense_Mutation_p.Q286E|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Q271E|LRRC37B_ENST00000394713.3_Missense_Mutation_p.Q259E|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Q177E	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	259						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGGACTTTCTCAATTCCATCT	0.527																																						uc002hgu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(775-777)CAA>GAA		leucine rich repeat containing 37B precursor							84.0	99.0	94.0					17																	30348940		2201	4291	6492	SO:0001583	missense	114659					integral to membrane		g.chr17:30348940C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.775C>G	17.37:g.30348940C>G	ENSP00000340519:p.Gln259Glu					LRRC37B_uc010wbx.1_Missense_Mutation_p.Q177E|LRRC37B_uc010csu.2_Missense_Mutation_p.Q259E	p.Q259E	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	786	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	259			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.775C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	5.864	0.343513	0.11069	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.65732	-0.12;-0.17;0.94;-0.16	1.54	-0.614	0.11590	.	.	.	.	.	T	0.60534	0.2276	L	0.39633	1.23	0.09310	N	1	B;D	0.54964	0.053;0.969	B;D	0.64877	0.004;0.93	T	0.51787	-0.8661	9	0.15066	T	0.55	.	4.1053	0.10033	0.0:0.5877:0.0:0.4123	.	259;259	Q17RC9;Q96QE4	.;LR37B_HUMAN	E	177;286;259;259	ENSP00000443345:Q177E;ENSP00000332536:Q286E;ENSP00000378202:Q259E;ENSP00000340519:Q259E	ENSP00000332536:Q286E	Q	+	1	0	LRRC37B	27373053	0.000000	0.05858	0.030000	0.17652	0.188000	0.23474	-0.563000	0.05943	-0.148000	0.11234	0.186000	0.17326	CAA		0.527	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1		NM_052888		57	118	0	0	0	0.01441	0	57	118		
CCL1	6346	broad.mit.edu	37	17	32688819	32688819	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:32688819G>A	ENST00000225842.3	-	2	242	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	58					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCTCATTGGAGCAGATGGA	0.483											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hid.1		NaN																	0					0						c.(172-174)TCC>TTC		small inducible cytokine A1 precursor							180.0	178.0	179.0					17																	32688819		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688819G>A	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.173C>T	17.37:g.32688819G>A	ENSP00000225842:p.Ser58Phe		OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.S58F	NM_002981	NP_002972	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	245	-		Ovarian(249;0.0443)|Breast(31;0.133)	58					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.173C>T	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095597	0.36952	.	.	ENSG00000108702	ENST00000225842	T	0.05513	3.43	4.4	3.44	0.39384	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.918831	0.09268	N	0.825579	T	0.17280	0.0415	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.59948	0.866	T	0.12066	-1.0562	9	0.72032	D	0.01	-2.8958	8.4853	0.33067	0.1041:0.0:0.8959:0.0	.	58	P22362	CCL1_HUMAN	F	58	ENSP00000225842:S58F	ENSP00000225842:S58F	S	-	2	0	CCL1	29712932	0.024000	0.19004	0.009000	0.14445	0.008000	0.06430	1.621000	0.36986	1.462000	0.47948	-0.145000	0.13849	TCC		0.483	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2		NM_002981		82	182	0	0	0	0.01441	0	82	182		
MYO19	80179	broad.mit.edu	37	17	34856680	34856680	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:34856680G>A	ENST00000431794.3	-	23	2889	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	MYO19_ENST00000268852.9_Silent_p.L589L	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	789	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCCTGGATGAGCATGACGG	0.647																																						uc010wcy.1		NaN																	0				ovary(1)	1						c.(2365-2367)CTC>CTT		myosin XIX isoform 2							14.0	17.0	16.0					17																	34856680		2123	4236	6359	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856680G>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2367C>T	17.37:g.34856680G>A						MYO19_uc002hmw.2_Silent_p.L589L|MYO19_uc010cuu.2_RNA	p.L789L	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	24	3359	-		Breast(25;0.00957)|Ovarian(249;0.17)	789			IQ 2.		Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2367C>T	CCDS54112.1																																																																																				0.647	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1		NM_025109		3	22	0	0	0	0.009096	0	3	22		
DHRS11	79154	broad.mit.edu	37	17	34958561	34958561	+	IGR	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:34958561G>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'UTR|MRM1_ENST00000250156.7_Missense_Mutation_p.D108N	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GCAGAAACTGGACACAATGTG	0.697																																						uc002hne.2		NaN																	0					0						c.(322-324)GAC>AAC		mitochondrial rRNA methyltransferase 1 homolog							22.0	26.0	24.0					17																	34958561		2200	4286	6486	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958561G>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958561G>A						MRM1_uc002hnf.2_5'UTR	p.D108N	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	537	+		Breast(25;0.00957)|Ovarian(249;0.17)	108					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.322G>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159714	0.38119	.	.	ENSG00000129282	ENST00000250156	T	0.30714	1.52	4.9	4.9	0.64082	RNA 2-O ribose methyltransferase, substrate binding (2);	0.055923	0.64402	D	0.000001	T	0.41926	0.1180	L	0.58101	1.795	0.80722	D	1	P	0.40032	0.699	P	0.47786	0.557	T	0.33137	-0.9880	10	0.56958	D	0.05	-22.5064	15.1676	0.72840	0.0:0.0:1.0:0.0	.	108	Q6IN84	MRM1_HUMAN	N	108	ENSP00000250156:D108N	ENSP00000250156:D108N	D	+	1	0	MRM1	32032674	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.297000	0.89942	2.423000	0.82170	0.555000	0.69702	GAC		0.697	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		22	29	0	0	0	0.005443	0	22	29		
TADA2A	6871	broad.mit.edu	37	17	35804849	35804849	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:35804849G>A	ENST00000394395.2	+	8	756	c.583G>A	c.(583-585)Gat>Aat	p.D195N	TADA2A_ENST00000225396.6_Missense_Mutation_p.D195N|TADA2A_ENST00000586023.1_Missense_Mutation_p.D195N|TADA2A_ENST00000417170.1_Missense_Mutation_p.D195N|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	195					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTTTGTTGAAGATGACTCGGA	0.403																																						uc002hnt.2		NaN																	0				breast(3)|skin(1)	4						c.(583-585)GAT>AAT		transcriptional adaptor 2A isoform a							233.0	219.0	224.0					17																	35804849		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35804849G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.583G>A	17.37:g.35804849G>A	ENSP00000377918:p.Asp195Asn					TADA2A_uc002hnu.1_Missense_Mutation_p.D195N|TADA2A_uc002hnv.2_Missense_Mutation_p.D195N|TADA2A_uc010wdd.1_Missense_Mutation_p.D195N|TADA2A_uc002hnw.2_Missense_Mutation_p.D94N|TADA2A_uc010cvb.2_5'UTR	p.D195N	NM_001488	NP_001479	O75478	TAD2A_HUMAN			8	740	+			195					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.583G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979882	0.74360	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.43294	0.95;0.95;0.95	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	N	0.21508	0.67	0.80722	D	1	B;P	0.42692	0.181;0.787	B;B	0.40199	0.054;0.322	T	0.07927	-1.0747	10	0.41790	T	0.15	-21.6634	20.3539	0.98825	0.0:0.0:1.0:0.0	.	195;195	O75478-2;O75478	.;TAD2A_HUMAN	N	195;94;195;195	ENSP00000377918:D195N;ENSP00000225396:D195N;ENSP00000406699:D195N	ENSP00000225396:D195N	D	+	1	0	TADA2A	32878962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT		0.403	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3		NM_001488		83	170	0	0	0	0.01441	0	83	170		
SMARCE1	6605	broad.mit.edu	37	17	38787930	38787930	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:38787930C>G	ENST00000348513.6	-	9	1510	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	SMARCE1_ENST00000431889.2_Missense_Mutation_p.E226Q|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E174Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.E174Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E209Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.E209Q|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E174Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	244					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGAAGAAGTTCAGCTTCTAGT	0.353																																						uc002hux.2		NaN																	0					0						c.(730-732)GAA>CAA		SWI/SNF-related matrix-associated							118.0	109.0	112.0					17																	38787930		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787930C>G	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.730G>C	17.37:g.38787930C>G	ENSP00000323967:p.Glu244Gln					SMARCE1_uc010wff.1_Missense_Mutation_p.E209Q|SMARCE1_uc010wfg.1_Missense_Mutation_p.E174Q|SMARCE1_uc002huy.2_Missense_Mutation_p.E209Q|SMARCE1_uc010wfh.1_Missense_Mutation_p.E174Q|SMARCE1_uc010wfi.1_Missense_Mutation_p.E226Q	p.E244Q	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN			9	854	-		Breast(137;0.000812)	244			Potential.		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.730G>C	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194645|5.194645	0.94960|0.94960	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024|ENST00000264640	T;T;T|.	0.38077|.	1.16;1.18;2.31|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.82250|.	0.4996|.	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.71184|.	0.946;0.963;0.972|.	T|.	0.81743|.	-0.0793|.	10|.	0.72032|.	D|.	0.01|.	.|.	20.1253|20.1253	0.97977|0.97977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209;209;244|.	C0IMW5;C0IMW4;Q969G3|.	.;.;SMCE1_HUMAN|.	Q|S	244;174;226;209;38|57	ENSP00000323967:E244Q;ENSP00000445370:E226Q;ENSP00000367039:E209Q|.	ENSP00000323967:E244Q|.	E|X	-|-	1|2	0|2	SMARCE1|SMARCE1	36041456|36041456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.388000|7.388000	0.79795|0.79795	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.353	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1		NM_003079		20	38	0	0	0	0.00333	0	20	38		
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						uc002hvz.2		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(481-483)CTG>GTG		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	520	-		Breast(137;0.000496)	161			27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1				3	17	0	0	0	0.009096	0	3	17		
KCNH4	23415	broad.mit.edu	37	17	40317544	40317544	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40317544G>A	ENST00000264661.3	-	11	2340	c.2008C>T	c.(2008-2010)Cct>Tct	p.P670S	KCNH4_ENST00000607371.1_Missense_Mutation_p.P670S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	670					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCATACTCAGGATAGAGCCTC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(2008-2010)CCT>TCT		potassium voltage-gated channel, subfamily H,							70.0	65.0	66.0					17																	40317544		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317544G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2008C>T	17.37:g.40317544G>A	ENSP00000264661:p.Pro670Ser						p.P670S	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2341	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	670			Cytoplasmic (Potential).|cNMP.			Missense_Mutation	SNP	ENST00000264661.3	37	c.2008C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030962	0.75504	.	.	ENSG00000089558	ENST00000264661	D	0.97976	-4.64	3.92	2.92	0.33932	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.37261	N	0.002175	D	0.98557	0.9518	M	0.90483	3.12	0.58432	D	0.999999	D	0.58268	0.982	P	0.62435	0.902	D	0.98842	1.0755	10	0.59425	D	0.04	.	12.9133	0.58192	0.0:0.0:0.8363:0.1637	.	670	Q9UQ05	KCNH4_HUMAN	S	670	ENSP00000264661:P670S	ENSP00000264661:P670S	P	-	1	0	KCNH4	37571070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.724000	0.84798	0.962000	0.38057	0.561000	0.74099	CCT		0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		11	41	0	0	0	0.008291	0	11	41		
KCNH4	23415	broad.mit.edu	37	17	40317638	40317638	+	Silent	SNP	G	G	A	rs371090330		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40317638G>A	ENST00000264661.3	-	11	2246	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	KCNH4_ENST00000607371.1_Silent_p.F638F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	638					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTTAGCACGAAGTTTGGGT	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(1912-1914)TTC>TTT		potassium voltage-gated channel, subfamily H,		G		1,4405	2.1+/-5.4	0,1,2202	73.0	63.0	67.0		1914	-1.4	0.8	17		67	0,8600		0,0,4300	no	coding-synonymous	KCNH4	NM_012285.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		638/1018	40317638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317638G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1914C>T	17.37:g.40317638G>A							p.F638F	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2247	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	638			Cytoplasmic (Potential).|cNMP.			Silent	SNP	ENST00000264661.3	37	c.1914C>T	CCDS11420.1																																																																																				0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		23	38	0	0	0	0.008361	0	23	38		
KCNH4	23415	broad.mit.edu	37	17	40321612	40321612	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40321612G>A	ENST00000264661.3	-	9	1805	c.1473C>T	c.(1471-1473)cgC>cgT	p.R491R	KCNH4_ENST00000607371.1_Silent_p.R491R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	491					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTCCTTCATGCGGCTGTGGT	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NaN																	0				large_intestine(1)	1						c.(1471-1473)CGC>CGT		potassium voltage-gated channel, subfamily H,							90.0	75.0	80.0					17																	40321612		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321612G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1473C>T	17.37:g.40321612G>A							p.R491R	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1806	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	491			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000264661.3	37	c.1473C>T	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285		24	57	0	0	0	0.005443	0	24	57		
TUBG2	27175	broad.mit.edu	37	17	40818450	40818450	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:40818450C>T	ENST00000251412.7	+	10	1305	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	369					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TACCTGCCCTCGGCCCACCGG	0.607																																						uc010wgr.1		NaN																	0				ovary(1)	1						c.(1105-1107)TCG>TTG		tubulin, gamma 2							70.0	73.0	72.0					17																	40818450		2203	4297	6500	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818450C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1106C>T	17.37:g.40818450C>T	ENSP00000251412:p.Ser369Leu					TUBG2_uc002iaq.2_Missense_Mutation_p.S211L|TUBG2_uc002iar.2_Missense_Mutation_p.S216L|TUBG2_uc002ias.2_Missense_Mutation_p.S211L|TUBG2_uc002iap.2_Missense_Mutation_p.S216L	p.S369L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1362	+		Breast(137;0.00116)	369					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1106C>T	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215046	0.58452	.	.	ENSG00000037042	ENST00000251412	D	0.84730	-1.89	5.73	4.77	0.60923	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.85957	0.5818	M	0.73962	2.25	0.80722	D	1	P	0.49185	0.92	B	0.43413	0.419	D	0.87759	0.2597	10	0.87932	D	0	-9.7829	14.6935	0.69103	0.0:0.9305:0.0:0.0695	.	369	Q9NRH3	TBG2_HUMAN	L	369	ENSP00000251412:S369L	ENSP00000251412:S369L	S	+	2	0	TUBG2	38071976	1.000000	0.71417	0.889000	0.34880	0.090000	0.18270	7.594000	0.82698	1.434000	0.47414	0.655000	0.94253	TCG		0.607	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1		NM_016437		39	66	0	0	0	0.01441	0	39	66		
MYCBPAP	84073	broad.mit.edu	37	17	48599420	48599420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:48599420G>A	ENST00000323776.5	+	10	1526	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R418K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGCTGGATCAGAGGCAGTAAT	0.562																																						uc010wmr.1		NaN																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(1363-1365)AGA>AAA		Myc-binding protein-associated protein							106.0	93.0	97.0					17																	48599420		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48599420G>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1364G>A	17.37:g.48599420G>A	ENSP00000323184:p.Arg455Lys					MYCBPAP_uc002iqx.2_Missense_Mutation_p.R455K|MYCBPAP_uc002iqz.2_RNA	p.R455K	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		10	1526	+	Breast(11;1.23e-18)		418						Missense_Mutation	SNP	ENST00000323776.5	37	c.1364G>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389804	0.61956	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.42900	0.96;0.96	5.08	4.09	0.47781	.	0.315482	0.27072	N	0.021065	T	0.45115	0.1326	M	0.72479	2.2	0.22457	N	0.999082	P;P	0.46220	0.774;0.874	P;P	0.44946	0.465;0.465	T	0.39761	-0.9598	10	0.28530	T	0.3	-17.8926	12.1088	0.53827	0.0896:0.0:0.9104:0.0	.	418;455	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	K	455;418	ENSP00000323184:R455K;ENSP00000397209:R418K	ENSP00000323184:R455K	R	+	2	0	MYCBPAP	45954419	0.808000	0.29022	0.999000	0.59377	0.984000	0.73092	1.691000	0.37721	2.516000	0.84829	0.650000	0.86243	AGA		0.562	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133		33	23	0	0	0	0.00623	0	33	23		
KIAA0195	9772	broad.mit.edu	37	17	73488566	73488566	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:73488566G>C	ENST00000314256.7	+	15	2002	c.1608G>C	c.(1606-1608)ggG>ggC	p.G536G	KIAA0195_ENST00000579208.1_Silent_p.G187G|KIAA0195_ENST00000375248.5_Silent_p.G546G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	536						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGCCTGGGATGGAGAGCG	0.632																																						uc002jnz.3		NaN																	0				ovary(1)	1						c.(1606-1608)GGG>GGC		hypothetical protein LOC9772							53.0	49.0	50.0					17																	73488566		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73488566G>C		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1608G>C	17.37:g.73488566G>C						KIAA0195_uc010wsa.1_Silent_p.G546G|KIAA0195_uc010wsb.1_Silent_p.G176G	p.G536G	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	1883	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		536					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.1608G>C	CCDS32732.1																																																																																				0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738		5	37	0	0	0	0.00308	0	5	37		
SEC14L1	6397	broad.mit.edu	37	17	75196652	75196652	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr17:75196652G>C	ENST00000413679.2	+	9	1209	c.906G>C	c.(904-906)ttG>ttC	p.L302F	SEC14L1_ENST00000591437.1_Missense_Mutation_p.L268F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L302F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L302F|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L268F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L302F|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L302F|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L302F	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	302					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GTCAGTCTTTGACGTGGAGAA	0.458																																						uc002jto.2		NaN																	0				ovary(2)	2						c.(904-906)TTG>TTC		SEC14 (S. cerevisiae)-like 1 isoform a							145.0	138.0	140.0					17																	75196652		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75196652G>C	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.906G>C	17.37:g.75196652G>C	ENSP00000394716:p.Leu302Phe					SEC14L1_uc010dhc.2_Missense_Mutation_p.L302F|SEC14L1_uc010wth.1_Missense_Mutation_p.L302F|SEC14L1_uc002jtm.2_Missense_Mutation_p.L302F|SEC14L1_uc010wti.1_Missense_Mutation_p.L268F	p.L302F	NM_003003	NP_002994	Q92503	S14L1_HUMAN			9	1173	+			302					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.906G>C	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742488	0.49151	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.76578	-0.93;-0.93;-0.92;-0.92;-0.92;-1.03	5.41	-2.6	0.06190	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.064020	0.64402	D	0.000008	D	0.84506	0.5487	M	0.85373	2.75	0.42021	D	0.990987	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.81955	-0.0696	10	0.87932	D	0	-26.3306	6.1293	0.20197	0.4336:0.2115:0.3549:0.0	.	302;302	Q92503-2;Q92503	.;S14L1_HUMAN	F	302;302;302;302;302;268	ENSP00000376268:L302F;ENSP00000406030:L302F;ENSP00000390392:L302F;ENSP00000408169:L302F;ENSP00000394716:L302F;ENSP00000389838:L268F	ENSP00000376268:L302F	L	+	3	2	SEC14L1	72708247	0.639000	0.27234	0.012000	0.15200	0.620000	0.37586	-0.179000	0.09768	-0.038000	0.13624	-0.302000	0.09304	TTG		0.458	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		NM_003003		58	37	0	0	0	0.01441	0	58	37		
TXNDC2	84203	broad.mit.edu	37	18	9887461	9887461	+	Missense_Mutation	SNP	A	A	C	rs202224858		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:9887461A>C	ENST00000306084.6	+	2	1184	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.I262L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAGGGTGACATCCCCAAGTC	0.592																																						uc002koi.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(985-987)ATC>CTC		thioredoxin domain-containing 2 isoform 2																																				SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887461A>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.985A>C	18.37:g.9887461A>C	ENSP00000304908:p.Ile329Leu					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.I262L	p.I329L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1434	+			329			15.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.985A>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	6.984	0.551687	0.13374	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	3.81	-5.69	0.02428	.	2.473800	0.01904	N	0.039389	T	0.09202	0.0227	L	0.28192	0.835	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18524	-1.0334	9	.	.	.	-0.4461	0.3995	0.00423	0.2295:0.2558:0.2632:0.2515	.	329	Q86VQ3	TXND2_HUMAN	L	127;262;329;314	ENSP00000350419:I262L;ENSP00000304908:I329L	.	I	+	1	0	TXNDC2	9877461	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-1.114000	0.02977	-0.321000	0.08615	ATC		0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1				4	143	0	0	0	0.001168	0	4	143		
B4GALT6	9331	broad.mit.edu	37	18	29218639	29218639	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:29218639G>A	ENST00000306851.5	-	5	852	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Missense_Mutation_p.R147W	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	186					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AATTCCAGCCGCTGCTTCTGG	0.358																																						uc002kwz.3		NaN																	0					0						c.(556-558)CGG>TGG		beta-1,4-galactosyltransferase 6							87.0	88.0	88.0					18																	29218639		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29218639G>A	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.556C>T	18.37:g.29218639G>A	ENSP00000306459:p.Arg186Trp					B4GALT6_uc010dma.2_Missense_Mutation_p.R147W|B4GALT6_uc010dmb.2_Intron	p.R186W	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		5	853	-			186			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.556C>T	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200638	0.58126	.	.	ENSG00000118276	ENST00000306851;ENST00000237019	T;T	0.24350	1.86;1.86	5.89	0.768	0.18487	.	0.000000	0.64402	D	0.000002	T	0.56441	0.1985	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.962;0.985	T	0.68762	-0.5323	10	0.87932	D	0	-1.2982	17.8877	0.88862	0.0:0.0:0.3486:0.6514	.	147;186	G3XA83;Q9UBX8	.;B4GT6_HUMAN	W	186;147	ENSP00000306459:R186W;ENSP00000237019:R147W	ENSP00000237019:R147W	R	-	1	2	B4GALT6	27472637	1.000000	0.71417	0.976000	0.42696	0.563000	0.35712	1.397000	0.34543	-0.150000	0.11195	-0.261000	0.10672	CGG		0.358	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2		NM_004775		3	86	0	0	0	0.000602	0	3	86		
RIT2	6014	broad.mit.edu	37	18	40323592	40323592	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:40323592A>T	ENST00000326695.5	-	5	691	c.520T>A	c.(520-522)Ttt>Att	p.F174I	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	174					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCCATGAAAAGCATCATCA	0.428																																						uc002lav.2		NaN																	0				ovary(1)	1						c.(520-522)TTT>ATT		Ras-like without CAAX 2							109.0	109.0	109.0					18																	40323592		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40323592A>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.520T>A	18.37:g.40323592A>T	ENSP00000321805:p.Phe174Ile					RIT2_uc010dnf.2_3'UTR	p.F174I	NM_002930	NP_002921	Q99578	RIT2_HUMAN			5	693	-			174					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.520T>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331048	0.81690	.	.	ENSG00000152214	ENST00000326695	D	0.82803	-1.65	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000007	D	0.93262	0.7853	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94935	0.8086	10	0.87932	D	0	.	15.446	0.75232	1.0:0.0:0.0:0.0	.	174	Q99578	RIT2_HUMAN	I	174	ENSP00000321805:F174I	ENSP00000321805:F174I	F	-	1	0	RIT2	38577590	1.000000	0.71417	0.973000	0.42090	0.854000	0.48673	6.697000	0.74603	2.063000	0.61619	0.533000	0.62120	TTT		0.428	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1		NM_002930		20	33	0	0	0	0.010504	0	20	33		
ZBTB7C	201501	broad.mit.edu	37	18	45567023	45567023	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:45567023C>G	ENST00000588982.1	-	3	957	c.456G>C	c.(454-456)gaG>gaC	p.E152D	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E152D|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E152D|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E152D|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E152D			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	152	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						cctcttcgtcctcctcatcat	0.577																																						uc002lda.2		NaN																	0				ovary(1)	1						c.(454-456)GAG>GAC		zinc finger and BTB domain containing 7C							158.0	119.0	132.0					18																	45567023		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567023C>G	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.456G>C	18.37:g.45567023C>G	ENSP00000468782:p.Glu152Asp					ZBTB7C_uc002ldb.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E161D|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E174D|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dny.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dob.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doc.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dod.1_Missense_Mutation_p.E174D|ZBTB7C_uc010doe.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dof.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dog.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doh.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doi.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doj.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dok.1_Missense_Mutation_p.E201D|ZBTB7C_uc010dol.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doa.1_Missense_Mutation_p.E174D|ZBTB7C_uc010don.1_Missense_Mutation_p.E160D|ZBTB7C_uc010doo.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dop.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doq.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dor.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dos.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dot.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dou.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dom.1_Missense_Mutation_p.E161D	p.E152D	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			1	472	-			152			Glu-rich.|Asp-rich.		O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.456G>C	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	1.972	-0.436192	0.04636	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.05649	3.41;3.41	5.26	2.36	0.29203	.	0.314617	0.29707	N	0.011420	T	0.09468	0.0233	N	0.19112	0.55	0.30261	N	0.793125	B;B;D	0.76494	0.001;0.001;0.999	B;B;D	0.73708	0.002;0.002;0.981	T	0.14117	-1.0484	10	0.28530	T	0.3	.	6.5517	0.22438	0.0:0.5654:0.2821:0.1525	.	152;152;152	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	D	152	ENSP00000439781:E152D;ENSP00000328732:E152D	ENSP00000328732:E152D	E	-	3	2	ZBTB7C	43821021	0.000000	0.05858	0.982000	0.44146	0.112000	0.19704	-3.604000	0.00417	0.173000	0.19788	0.555000	0.69702	GAG		0.577	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1		NM_001039360		5	17	0	0	0	0.000602	0	5	17		
ALPK2	115701	broad.mit.edu	37	18	56203518	56203518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:56203518C>G	ENST00000361673.3	-	5	4114	c.3901G>C	c.(3901-3903)Gag>Cag	p.E1301Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1301						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAGCATCCTCTGGACTGTGA	0.507																																						uc002lhj.3		NaN																	0		p.H1301H(1)		ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3901-3903)GAG>CAG		heart alpha-kinase							111.0	105.0	107.0					18																	56203518		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203518C>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3901G>C	18.37:g.56203518C>G	ENSP00000354991:p.Glu1301Gln					ALPK2_uc002lhk.1_Missense_Mutation_p.E632Q	p.E1301Q	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4115	-			1301					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3901G>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.944400	0.00479	.	.	ENSG00000198796	ENST00000361673	T	0.39787	1.06	2.93	-1.24	0.09435	.	19.455400	0.00166	N	0.000012	T	0.14787	0.0357	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.09143	-1.0688	10	0.12430	T	0.62	4.5153	0.7076	0.00918	0.2353:0.1922:0.3854:0.1872	.	1296;1301	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Q	1301	ENSP00000354991:E1301Q	ENSP00000354991:E1301Q	E	-	1	0	ALPK2	54354498	0.002000	0.14202	0.000000	0.03702	0.032000	0.12392	0.102000	0.15272	-0.323000	0.08602	-0.560000	0.04181	GAG		0.507	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947		23	50	0	0	0	0.009535	0	23	50		
ZNF532	55205	broad.mit.edu	37	18	56587297	56587297	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:56587297C>T	ENST00000336078.4	+	4	2554	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	ZNF532_ENST00000591083.1_Missense_Mutation_p.P593L|ZNF532_ENST00000591808.1_Missense_Mutation_p.P593L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P593L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P593L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTGTCAATCCAGTCCCTGTT	0.557																																						uc002lho.2		NaN																	0				breast(1)|skin(1)	2						c.(1777-1779)CCA>CTA		zinc finger protein 532							49.0	46.0	47.0					18																	56587297		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587297C>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1778C>T	18.37:g.56587297C>T	ENSP00000338217:p.Pro593Leu					ZNF532_uc002lhp.2_Missense_Mutation_p.P591L|ZNF532_uc010xeg.1_Missense_Mutation_p.P591L|ZNF532_uc002lhr.2_Missense_Mutation_p.P591L|ZNF532_uc002lhs.2_Missense_Mutation_p.P591L	p.P593L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	2325	+			593					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1778C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	16.71	3.199644	0.58126	.	.	ENSG00000074657	ENST00000336078	T	0.01560	4.77	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	L	0.28458	0.855	0.80722	D	1	D	0.57899	0.981	D	0.64595	0.927	T	0.53500	-0.8430	10	0.41790	T	0.15	-1.0078	19.6535	0.95827	0.0:1.0:0.0:0.0	.	593	Q9HCE3	ZN532_HUMAN	L	593	ENSP00000338217:P593L	ENSP00000338217:P593L	P	+	2	0	ZNF532	54738277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.748000	0.94277	0.550000	0.68814	CCA		0.557	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181		10	26	0	0	0	0.008291	0	10	26		
CCBE1	147372	broad.mit.edu	37	18	57363928	57363928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:57363928C>A	ENST00000439986.4	-	2	182	c.145G>T	c.(145-147)Gag>Tag	p.E49*	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	49					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.E49K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATTTTGCTCTCTGAGCAGATT	0.587											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(145-147)GAG>TAG		collagen and calcium binding EGF domains 1							99.0	103.0	102.0					18																	57363928		2203	4300	6503	SO:0001587	stop_gained	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57363928C>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.145G>T	18.37:g.57363928C>A	ENSP00000404464:p.Glu49*		OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022		p.E49*	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			2	215	-		Colorectal(73;0.175)	49					Q6MZX5|Q86SS2|Q8TF19	Nonsense_Mutation	SNP	ENST00000439986.4	37	c.145G>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576383	0.96565	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.5936	15.872	0.79127	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000404464:E49X	E	-	1	0	CCBE1	55514908	0.996000	0.38824	0.840000	0.33206	0.234000	0.25298	4.408000	0.59761	2.826000	0.97356	0.491000	0.48974	GAG		0.587	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2		NM_133459		10	54	1	0	2.32078e-09	0.003163	2.46325e-09	10	54		
NFATC1	4772	broad.mit.edu	37	18	77246380	77246380	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr18:77246380C>G	ENST00000427363.2	+	9	2225	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C	NFATC1_ENST00000253506.5_Missense_Mutation_p.S742C|NFATC1_ENST00000545796.1_Missense_Mutation_p.S270C|NFATC1_ENST00000318065.5_Missense_Mutation_p.S729C|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000397790.2_Missense_Mutation_p.S270C|NFATC1_ENST00000329101.4_Missense_Mutation_p.S729C|NFATC1_ENST00000586434.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	742	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GACCCCAGCTCCTGCCTCGTG	0.662																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2224-2226)TCC>TGC		nuclear factor of activated T-cells, cytosolic							106.0	121.0	116.0					18																	77246380		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246380C>G	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2225C>G	18.37:g.77246380C>G	ENSP00000389377:p.Ser742Cys					NFATC1_uc002lnd.2_Missense_Mutation_p.S742C|NFATC1_uc002lne.2_Missense_Mutation_p.S270C|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.S270C|NFATC1_uc002lnf.2_Missense_Mutation_p.S729C|NFATC1_uc002lng.2_Missense_Mutation_p.S729C|NFATC1_uc010xfk.1_Intron	p.S742C	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2678	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	742			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.2225C>G		.	.	.	.	.	.	.	.	.	.	c	16.66	3.183653	0.57800	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.23348	1.91;1.93;1.93;1.93;1.93	4.59	4.59	0.56863	.	0.377327	0.28538	N	0.014987	T	0.26919	0.0659	L	0.39898	1.24	0.51767	D	0.999939	P;B	0.46706	0.883;0.008	B;B	0.42692	0.395;0.009	T	0.05115	-1.0905	10	0.48119	T	0.1	-31.5673	17.7876	0.88542	0.0:1.0:0.0:0.0	.	742;729	O95644;B5B2M5	NFAC1_HUMAN;.	C	742;742;270;729;270;729;706	ENSP00000316553:S742C;ENSP00000253506:S742C;ENSP00000380892:S270C;ENSP00000327850:S729C;ENSP00000439992:S270C	ENSP00000253506:S742C	S	+	2	0	NFATC1	75347368	1.000000	0.71417	0.924000	0.36721	0.176000	0.22953	6.659000	0.74412	2.267000	0.75376	0.591000	0.81541	TCC		0.662	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390		57	129	0	0	0	0.01441	0	57	129		
MKNK2	2872	broad.mit.edu	37	19	2042510	2042510	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:2042510C>T	ENST00000591601.1	-	9	701	c.666G>A	c.(664-666)gtG>gtA	p.V222V	MKNK2_ENST00000250896.3_Silent_p.V222V|MKNK2_ENST00000309340.7_Silent_p.V222V|MKNK2_ENST00000541165.1_Silent_p.V91V|MKNK2_ENST00000588014.1_5'UTR|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGATCTTCACGGGGGAGA	0.692																																						uc002lus.2		NaN																	0				lung(1)|breast(1)	2						c.(664-666)GTG>GTA		MAP kinase-interacting serine/threonine kinase 2							28.0	27.0	27.0					19																	2042510		2198	4291	6489	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2042510C>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.666G>A	19.37:g.2042510C>T						MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Silent_p.V61V|MKNK2_uc010xgv.1_Silent_p.V91V|MKNK2_uc002lur.2_Silent_p.V222V|MKNK2_uc002lut.1_5'UTR	p.V222V	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	911	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	222			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.666G>A	CCDS12080.1																																																																																				0.692	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1		NM_199054		3	3	0	0	0	0.001168	0	3	3		
ZNF77	58492	broad.mit.edu	37	19	2933592	2933592	+	Silent	SNP	C	C	G	rs556368046		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:2933592C>G	ENST00000314531.4	-	4	1625	c.1533G>C	c.(1531-1533)gtG>gtC	p.V511V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCGTTCTCACGTGCACAC	0.493																																						uc002lws.3		NaN																	0				ovary(1)	1						c.(1531-1533)GTG>GTC		zinc finger protein 77							208.0	169.0	182.0					19																	2933592		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933592C>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1533G>C	19.37:g.2933592C>G							p.V511V	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1664	-			511			C2H2-type 11.		Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.1533G>C	CCDS12099.1																																																																																				0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1		NM_021217		37	74	0	0	0	0.009718	0	37	74		
CACTIN	58509	broad.mit.edu	37	19	3620192	3620192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:3620192C>A	ENST00000429344.2	-	4	869	c.817G>T	c.(817-819)Gag>Tag	p.E273*	CACTIN_ENST00000248420.5_Nonsense_Mutation_p.E273*|CACTIN_ENST00000221899.3_Nonsense_Mutation_p.E205*	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	273					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TGCTCTGCCTCCTTCTCGCGC	0.672																																						uc002lyh.2		NaN																	0					0						c.(817-819)GAG>TAG		chromosome 19 open reading frame 29							44.0	51.0	49.0					19																	3620192		2189	4285	6474	SO:0001587	stop_gained	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3620192C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.817G>T	19.37:g.3620192C>A	ENSP00000415078:p.Glu273*					C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Nonsense_Mutation_p.E121*|C19orf29_uc002lyi.3_Nonsense_Mutation_p.E273*|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	p.E273*	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	4	870	-		Hepatocellular(1079;0.137)	273			Potential.		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Nonsense_Mutation	SNP	ENST00000429344.2	37	c.817G>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	37	6.615592	0.97709	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452;ENST00000221899	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.6056	0.76668	0.0:1.0:0.0:0.0	.	.	.	.	X	273;273;85;205	.	ENSP00000221899:E205X	E	-	1	0	C19orf29	3571192	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	7.612000	0.82975	2.029000	0.59856	0.561000	0.74099	GAG		0.672	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2				7	20	1	0	1.58986e-06	0.008291	1.65149e-06	7	20		
UHRF1	29128	broad.mit.edu	37	19	4910993	4910993	+	RNA	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:4910993C>A	ENST00000592666.1	+	0	672							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGCGGAAGATCCAGGAGCTGT	0.622											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mbo.2		NaN																	0				lung(2)	2						c.(94-96)ATC>ATA		ubiquitin-like with PHD and ring finger domains							76.0	91.0	86.0					19																	4910993		2091	4221	6312			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4910993C>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910993C>A			OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.I45I	p.I32I	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	2	264	+			32			Ubiquitin-like.		A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Silent	SNP	ENST00000592666.1	37	c.96C>A																																																																																					0.622	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1		NM_001048201		55	78	1	0	3.28615e-30	0.01441	3.62424e-30	55	78		
UHRF1	29128	broad.mit.edu	37	19	4911005	4911005	+	RNA	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:4911005C>T	ENST00000592666.1	+	0	684							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGGAGCTGTTCCACGTGGAGC	0.637											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mbo.2		NaN																	0				lung(2)	2						c.(106-108)TTC>TTT		ubiquitin-like with PHD and ring finger domains							76.0	90.0	85.0					19																	4911005		2081	4215	6296			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4911005C>T	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4911005C>T			OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.F49F	p.F36F	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	2	276	+			36			Ubiquitin-like.		A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Silent	SNP	ENST00000592666.1	37	c.108C>T																																																																																					0.637	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1		NM_001048201		56	74	0	0	0	0.01441	0	56	74		
CRB3	92359	broad.mit.edu	37	19	6466563	6466563	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:6466563G>A	ENST00000598494.1	+	4	774	c.243G>A	c.(241-243)cgG>cgA	p.R81R	CRB3_ENST00000356762.3_Silent_p.R81R|CRB3_ENST00000600229.1_Silent_p.R81R|CRB3_ENST00000308243.7_Silent_p.R81R			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	81					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						TGTTGGTGCGGAAGCTTCGGG	0.652																																						uc002mey.2		NaN																	0					0						c.(241-243)CGG>CGA		crumbs 3 isoform a precursor							108.0	99.0	102.0					19																	6466563		2203	4300	6503	SO:0001819	synonymous_variant	92359				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding	g.chr19:6466563G>A	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.243G>A	19.37:g.6466563G>A						CRB3_uc002mez.2_Silent_p.R81R|CRB3_uc002mfa.2_Silent_p.R81R	p.R81R	NM_139161	NP_631900	Q9BUF7	CRUM3_HUMAN			4	774	+			81			Cytoplasmic (Potential).		A8KA91|D6W643|Q8N0V8|Q8WVA0	Silent	SNP	ENST00000598494.1	37	c.243G>A	CCDS12167.1																																																																																				0.652	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1				83	98	0	0	0	0.01441	0	83	98		
MYO1F	4542	broad.mit.edu	37	19	8615474	8615474	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:8615474C>T	ENST00000338257.8	-	9	1143	c.876G>A	c.(874-876)ggG>ggA	p.G292G	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	292	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCGTAATTCCCGTCTTCAC	0.607																																						uc002mkg.2		NaN																	0				ovary(2)|skin(1)	3						c.(874-876)GGG>GGA		myosin IF							90.0	93.0	92.0					19																	8615474		2037	4175	6212	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8615474C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.876G>A	19.37:g.8615474C>T						MYO1F_uc002mkh.2_Silent_p.G292G	p.G292G	NM_012335	NP_036467	O00160	MYO1F_HUMAN			9	990	-			292			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.876G>A	CCDS42494.1																																																																																				0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2				34	75	0	0	0	0.011902	0	34	75		
KEAP1	9817	broad.mit.edu	37	19	10602630	10602630	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:10602630C>T	ENST00000171111.5	-	3	1495	c.948G>A	c.(946-948)gtG>gtA	p.V316V	KEAP1_ENST00000393623.2_Silent_p.V316V|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	316					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGCAGGGCATCACCTGCGTGG	0.637																																						uc002moq.1		NaN																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(946-948)GTG>GTA		kelch-like ECH-associated protein 1							39.0	43.0	42.0					19																	10602630		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602630C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.948G>A	19.37:g.10602630C>T						KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V	p.V316V	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1104	-			316					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.948G>A	CCDS12239.1																																																																																				0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		14	22	0	0	0	0.004007	0	14	22		
KEAP1	9817	broad.mit.edu	37	19	10602848	10602848	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:10602848C>T	ENST00000171111.5	-	3	1277	c.730G>A	c.(730-732)Gag>Aag	p.E244K	KEAP1_ENST00000393623.2_Missense_Mutation_p.E244K|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	244	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGGAAGACCTCGGACTCGCAG	0.627																																						uc002moq.1		NaN																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(730-732)GAG>AAG		kelch-like ECH-associated protein 1							72.0	62.0	66.0					19																	10602848		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602848C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.730G>A	19.37:g.10602848C>T	ENSP00000171111:p.Glu244Lys					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E244K	p.E244K	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	886	-			244			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.730G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	36	5.740728	0.96873	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69435	-0.4;-0.4	5.73	5.73	0.89815	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	L	0.38838	1.175	0.80722	D	1	D	0.63046	0.992	P	0.55345	0.774	T	0.59862	-0.7374	10	0.07482	T	0.82	.	17.3932	0.87439	0.0:1.0:0.0:0.0	.	244	Q14145	KEAP1_HUMAN	K	244	ENSP00000171111:E244K;ENSP00000377245:E244K	ENSP00000171111:E244K	E	-	1	0	KEAP1	10463848	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	2.707000	0.92482	0.555000	0.69702	GAG		0.627	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		16	48	0	0	0	0.00499	0	16	48		
CCDC151	115948	broad.mit.edu	37	19	11545659	11545659	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:11545659C>G	ENST00000356392.4	-	1	266	c.179G>C	c.(178-180)aGa>aCa	p.R60T	PRKCSH_ENST00000412601.1_5'Flank|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000252455.2_5'Flank|PRKCSH_ENST00000589838.1_5'Flank|PRKCSH_ENST00000592741.1_5'Flank|CCDC151_ENST00000591179.1_Missense_Mutation_p.R60T|PRKCSH_ENST00000587327.1_5'Flank|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000586836.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	60										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCCTGCACCTCTGTGGAAGGA	0.597											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mrs.2		NaN																	0				ovary(1)	1						c.(178-180)AGA>ACA		coiled-coil domain containing 151							89.0	94.0	92.0					19																	11545659		1960	4144	6104	SO:0001583	missense	115948							g.chr19:11545659C>G		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.179G>C	19.37:g.11545659C>G	ENSP00000348757:p.Arg60Thr		OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_uc010dxz.2_Missense_Mutation_p.R60T|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank	p.R60T	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			1	322	-			60					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.179G>C	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	4.803	0.149351	0.09185	.	.	ENSG00000198003	ENST00000356392;ENST00000543934	T	0.11604	2.76	4.54	0.0552	0.14314	.	1.188910	0.06600	N	0.753546	T	0.06096	0.0158	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.21452	0.005;0.056	B;B	0.20955	0.002;0.032	T	0.44345	-0.9334	10	0.15066	T	0.55	-0.2578	2.1193	0.03722	0.1179:0.4279:0.2112:0.2431	.	60;60	B3KPH7;A5D8V7	.;CC151_HUMAN	T	60;39	ENSP00000348757:R60T	ENSP00000348757:R60T	R	-	2	0	CCDC151	11406659	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.038000	0.13862	0.212000	0.20703	0.655000	0.94253	AGA		0.597	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1		NM_145045		21	58	0	0	0	0.00278	0	21	58		
ZNF441	126068	broad.mit.edu	37	19	11891595	11891595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:11891595C>T	ENST00000357901.4	+	4	1058	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ZNF441_ENST00000454339.2_Missense_Mutation_p.S252F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTCTTTCTCCCAGTTCA	0.403																																						uc010dyj.2		NaN																	0				ovary(1)	1						c.(955-957)TCT>TTT		zinc finger protein 441							85.0	86.0	86.0					19																	11891595		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891595C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.956C>T	19.37:g.11891595C>T	ENSP00000350576:p.Ser319Phe					ZNF441_uc002msn.3_Missense_Mutation_p.S275F	p.S319F	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1150	+			319			C2H2-type 6.			Missense_Mutation	SNP	ENST00000357901.4	37	c.956C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	9.592	1.126409	0.20959	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.03580	3.88;3.88	0.998	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	L	0.31157	0.91	0.09310	N	1	P	0.37708	0.606	B	0.31290	0.127	T	0.45556	-0.9253	9	0.10377	T	0.69	.	4.3447	0.11127	0.4243:0.365:0.2107:0.0	.	319	Q8N8Z8	ZN441_HUMAN	F	275;319;252	ENSP00000350576:S319F;ENSP00000403738:S252F	ENSP00000350576:S319F	S	+	2	0	ZNF441	11752595	0.000000	0.05858	0.001000	0.08648	0.950000	0.60333	-2.667000	0.00846	-0.635000	0.05531	0.298000	0.19748	TCT		0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355		29	48	0	0	0	0.007291	0	29	48		
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					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.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						uc002mtb.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(1507-1509)CCT>CGT		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_uc010dym.1_Missense_Mutation_p.P346R	p.P503R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1651	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2				3	65	0	0	0	0.000602	0	3	65		
WDR83	84292	broad.mit.edu	37	19	12786441	12786441	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:12786441G>T	ENST00000418543.3	+	11	1252	c.903G>T	c.(901-903)caG>caT	p.Q301H	WDR83_ENST00000242796.4_Missense_Mutation_p.Q301H	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	301					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCAGCGTCCAGTGCTGGCGAG	0.647											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mue.3		NaN																	0				lung(1)|breast(1)	2						c.(901-903)CAG>CAT		mitogen-activated protein kinase organizer 1							37.0	33.0	34.0					19																	12786441		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12786441G>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.903G>T	19.37:g.12786441G>T	ENSP00000402653:p.Gln301His		OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682	WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Missense_Mutation_p.Q301H	p.Q301H	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN			11	1238	+			301			WD 7.		B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.903G>T	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537148	0.27475	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.44881	0.91;0.91	5.88	-10.2	0.00374	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.279489	0.41605	N	0.000857	T	0.30355	0.0762	M	0.70595	2.14	0.43133	D	0.994874	P	0.47302	0.893	B	0.43301	0.415	T	0.54675	-0.8258	10	0.66056	D	0.02	.	4.2292	0.10596	0.1113:0.3938:0.2314:0.2634	.	301	Q9BRX9	WDR83_HUMAN	H	301	ENSP00000402653:Q301H;ENSP00000242796:Q301H	ENSP00000242796:Q301H	Q	+	3	2	WDR83	12647441	0.868000	0.29978	0.535000	0.28026	0.107000	0.19398	-0.159000	0.10056	-1.854000	0.01163	-2.051000	0.00406	CAG		0.647	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1		NM_032332		7	14	1	0	5.4927e-09	0.004482	5.78406e-09	7	14		
OR10H2	26538	broad.mit.edu	37	19	15839103	15839103	+	Missense_Mutation	SNP	G	G	A	rs377347932		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:15839103G>A	ENST00000305899.3	+	1	270	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGCTGGCCGACCTGCTGTC	0.622																																						uc002nbm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(250-252)GAC>AAC		olfactory receptor, family 10, subfamily H,		G	ASN/ASP	0,4406		0,0,2203	85.0	72.0	76.0		250	2.3	0.9	19		76	1,8595		0,1,4297	no	missense	OR10H2	NM_013939.2	23	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/316	15839103	1,13001	2203	4298	6501	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839103G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.250G>A	19.37:g.15839103G>A	ENSP00000306095:p.Asp84Asn						p.D84N	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	270	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		84			Extracellular (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.250G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	4.976	0.181234	0.09495	0.0	1.16E-4	ENSG00000171942	ENST00000305899	T	0.02974	4.09	3.4	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.01061	0.0035	N	0.03177	-0.4	0.09310	N	1	P	0.41345	0.746	B	0.36504	0.226	T	0.43798	-0.9369	10	0.02654	T	1	.	7.6642	0.28421	0.133:0.0:0.867:0.0	.	84	O60403	O10H2_HUMAN	N	84	ENSP00000306095:D84N	ENSP00000306095:D84N	D	+	1	0	OR10H2	15700103	0.000000	0.05858	0.868000	0.34077	0.266000	0.26442	0.607000	0.24209	1.446000	0.47643	0.537000	0.68136	GAC		0.622	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1				3	45	0	0	0	0.00499	0	3	45		
SMIM7	79086	broad.mit.edu	37	19	16770802	16770802	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:16770802C>T	ENST00000487416.2	-	2	82	c.36G>A	c.(34-36)ctG>ctA	p.L12L	TMEM38A_ENST00000187762.2_5'Flank|SMIM7_ENST00000597711.1_Silent_p.L12L|CTC-429P9.4_ENST00000593962.1_5'UTR|SMIM7_ENST00000358726.6_Silent_p.L12L|SMIM7_ENST00000397349.2_5'Flank|CTC-429P9.4_ENST00000600705.1_Silent_p.L12L	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7	12						integral component of membrane (GO:0016021)											CGGCATTCATCAGCAACGTCC	0.617																																						uc002ner.2		NaN																	0					0						c.(34-36)CTG>CTA		hypothetical protein LOC79086 precursor							28.0	33.0	32.0					19																	16770802		2009	4169	6178	SO:0001819	synonymous_variant	79086					integral to membrane		g.chr19:16770802C>T	AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 42"""	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.36G>A	19.37:g.16770802C>T						TMEM38A_uc002nes.2_5'Flank|C19orf42_uc002neo.1_RNA|C19orf42_uc002nep.1_RNA	p.L12L	NM_024104	NP_077009	Q9BQ49	CS042_HUMAN			2	83	-			12					A8MX44	Silent	SNP	ENST00000487416.2	37	c.36G>A	CCDS12348.2																																																																																				0.617	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313801.2		NM_024104		7	26	0	0	0	0.006214	0	7	26		
UPF1	5976	broad.mit.edu	37	19	18943112	18943112	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:18943112G>C	ENST00000599848.1	+	1	303	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	UPF1_ENST00000262803.5_Missense_Mutation_p.E32Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	32	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACAGGGCTCCGAGTTCGAGTT	0.721																																						uc002nkg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(94-96)GAG>CAG		regulator of nonsense transcripts 1							53.0	55.0	55.0					19																	18943112		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18943112G>C	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.94G>C	19.37:g.18943112G>C	ENSP00000470142:p.Glu32Gln					UPF1_uc002nkf.2_Missense_Mutation_p.E32Q	p.E32Q	NM_002911	NP_002902	Q92900	RENT1_HUMAN			1	369	+			32			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.94G>C		.	.	.	.	.	.	.	.	.	.	G	5.746	0.321983	0.10900	.	.	ENSG00000005007	ENST00000262803	D	0.91124	-2.79	3.82	2.77	0.32553	.	0.118953	0.56097	U	0.000029	D	0.82604	0.5073	L	0.34521	1.04	0.58432	D	0.999996	B;B	0.30193	0.108;0.272	B;B	0.29862	0.05;0.108	T	0.73091	-0.4092	10	0.12103	T	0.63	-22.1268	10.5091	0.44851	0.0984:0.0:0.9016:0.0	.	32;32	Q92900;Q92900-2	RENT1_HUMAN;.	Q	32	ENSP00000262803:E32Q	ENSP00000262803:E32Q	E	+	1	0	UPF1	18804112	1.000000	0.71417	0.995000	0.50966	0.123000	0.20343	7.487000	0.81328	0.604000	0.29930	-0.436000	0.05848	GAG		0.721	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911		30	35	0	0	0	0.00874	0	30	35		
ZNF737	100129842	broad.mit.edu	37	19	20727954	20727954	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:20727954T>C	ENST00000427401.4	-	4	1149	c.1055A>G	c.(1054-1056)tAc>tGc	p.Y352C		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGATGAGAAGTACTTAAAGGC	0.418																																						uc002npa.2		NaN																	0				ovary(1)	1						c.(1054-1056)TAC>TGC		zinc finger protein 737							21.0	20.0	20.0					19																	20727954		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727954T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1055A>G	19.37:g.20727954T>C	ENSP00000395733:p.Tyr352Cys						p.Y352C	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1235	-			352					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1055A>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	4.175	0.031118	0.08101	.	.	ENSG00000237440	ENST00000427401	T	0.19250	2.16	0.801	-0.554	0.11811	.	.	.	.	.	T	0.10594	0.0259	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.31641	-0.9936	9	0.34782	T	0.22	.	2.6283	0.04936	0.0:0.4767:0.0:0.5233	.	352	C9JHM3	.	C	352	ENSP00000395733:Y352C	ENSP00000395733:Y352C	Y	-	2	0	ZNF737	20519794	0.000000	0.05858	0.455000	0.27031	0.456000	0.32438	-0.612000	0.05616	0.147000	0.19030	0.145000	0.16022	TAC		0.418	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		20	36	0	0	0	0.010504	0	20	36		
ZNF492	57615	broad.mit.edu	37	19	22847709	22847709	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:22847709T>A	ENST00000456783.2	+	4	1482	c.1238T>A	c.(1237-1239)aTa>aAa	p.I413K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACACATAAGATAATTCATACT	0.368																																						uc002nqw.3		NaN																	0					0						c.(1237-1239)ATA>AAA		zinc finger protein 492							46.0	48.0	48.0					19																	22847709		2134	4261	6395	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847709T>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1238T>A	19.37:g.22847709T>A	ENSP00000413660:p.Ile413Lys						p.I413K	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1482	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	413			C2H2-type 10.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1238T>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	0.337	-0.952972	0.02285	.	.	ENSG00000229676	ENST00000456783	T	0.12774	2.65	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.00611	-1.325	0.36273	D	0.855277	B	0.09022	0.002	B	0.15870	0.014	T	0.47129	-0.9141	9	0.27082	T	0.32	.	5.7168	0.17964	0.0:0.0:0.6815:0.3185	.	413	Q9P255	ZN492_HUMAN	K	413	ENSP00000413660:I413K	ENSP00000413660:I413K	I	+	2	0	ZNF492	22639549	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	-3.982000	0.00320	-1.133000	0.02903	-1.209000	0.01634	ATA		0.368	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855		31	56	0	0	0	0.00623	0	31	56		
ZNF492	57615	broad.mit.edu	37	19	22847715	22847715	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:22847715A>G	ENST00000456783.2	+	4	1488	c.1244A>G	c.(1243-1245)cAt>cGt	p.H415R	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAGATAATTCATACTGGAGAG	0.378																																						uc002nqw.3		NaN																	0					0						c.(1243-1245)CAT>CGT		zinc finger protein 492							41.0	43.0	42.0					19																	22847715		2118	4256	6374	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847715A>G	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1244A>G	19.37:g.22847715A>G	ENSP00000413660:p.His415Arg						p.H415R	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1488	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	415			C2H2-type 10.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1244A>G	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	13.44	2.236897	0.39498	.	.	ENSG00000229676	ENST00000456783	T	0.67523	-0.27	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79551	0.4465	M	0.91561	3.22	0.32197	N	0.578365	D	0.55605	0.972	P	0.59889	0.865	T	0.78505	-0.2178	9	0.66056	D	0.02	.	5.8144	0.18484	1.0:0.0:0.0:0.0	.	415	Q9P255	ZN492_HUMAN	R	415	ENSP00000413660:H415R	ENSP00000413660:H415R	H	+	2	0	ZNF492	22639555	0.998000	0.40836	0.056000	0.19401	0.056000	0.15407	4.108000	0.57817	0.231000	0.21079	0.228000	0.17796	CAT		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855		27	54	0	0	0	0.003755	0	27	54		
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C	rs201680274		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373																																						uc002nre.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)AAA>GAA		zinc finger protein 91							41.0	44.0	43.0					19																	23544724		2011	4192	6203	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544724T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1057A>G	19.37:g.23544724T>C	ENSP00000300619:p.Lys353Glu					ZNF91_uc010xrj.1_Missense_Mutation_p.K321E	p.K353E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1170	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	353			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1057A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	1.992	-0.431577	0.04669	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.05158	-0.105	0.09310	N	1	B;B	0.18968	0.032;0.0	B;B	0.15052	0.012;0.003	T	0.43376	-0.9395	9	0.12103	T	0.63	.	0.9503	0.01374	0.1559:0.2641:0.3143:0.2656	.	321;353	Q05481-2;Q05481	.;ZNF91_HUMAN	E	353;321	ENSP00000300619:K353E;ENSP00000380272:K321E	ENSP00000300619:K353E	K	-	1	0	ZNF91	23336564	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-4.975000	0.00164	-1.510000	0.01796	-1.288000	0.01363	AAA		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		3	99	0	0	0	0.000602	0	3	99		
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						uc002nre.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(997-999)CGT>CAT		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_uc010xrj.1_Missense_Mutation_p.R301H	p.R333H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1111	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).		C2H2-type 7.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		6	151	0	0	0	0.00308	0	6	151		
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						uc002nre.2		NaN																	0					0						c.(913-915)CAT>CGT		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_uc010xrj.1_Missense_Mutation_p.H273R	p.H305R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1027	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305			C2H2-type 6.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		9	158	0	0	0	0.006214	0	9	158		
PLEKHG2	64857	broad.mit.edu	37	19	39909624	39909624	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:39909624C>G	ENST00000409794.3	+	11	2094	c.1244C>G	c.(1243-1245)cCt>cGt	p.P415R	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P415R|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P415R|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P415R|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P356R	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	415					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGAACCACCCTGCCTCCATC	0.602																																						uc010xuz.1		NaN																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1243-1245)CCT>CGT		common-site lymphoma/leukemia guanine nucleotide							67.0	74.0	72.0					19																	39909624		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39909624C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1244C>G	19.37:g.39909624C>G	ENSP00000386733:p.Pro415Arg					PLEKHG2_uc010xuy.1_Missense_Mutation_p.P356R|PLEKHG2_uc002olj.2_Missense_Mutation_p.P415R|PLEKHG2_uc010xva.1_Missense_Mutation_p.P222R	p.P415R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1569	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		415					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1244C>G	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.058421|4.058421	0.76074|0.76074	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|D;D;D;D;D	.|0.88975	.|-2.45;-2.45;-2.45;-2.45;-2.45	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	D|D	0.91912|0.91912	0.7439|0.7439	L|L	0.52573|0.52573	1.65|1.65	0.52099|0.52099	D|D	0.999941|0.999941	.|P;D;P;B	.|0.76494	.|0.705;0.999;0.58;0.364	.|P;D;B;B	.|0.73380	.|0.684;0.98;0.322;0.341	D|D	0.89892|0.89892	0.4038|0.4038	5|10	.|0.25751	.|T	.|0.34	.|.	16.3372|16.3372	0.83068|0.83068	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415;415;356;415	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	V|R	312|415;415;415;356;415	.|ENSP00000386733:P415R;ENSP00000392906:P415R;ENSP00000367812:P415R;ENSP00000408857:P356R;ENSP00000386492:P415R	.|ENSP00000367812:P415R	L|P	+|+	1|2	2|0	PLEKHG2|PLEKHG2	44601464|44601464	0.903000|0.903000	0.30736|0.30736	0.964000|0.964000	0.40570|0.40570	0.990000|0.990000	0.78478|0.78478	2.118000|2.118000	0.41949|0.41949	2.409000|2.409000	0.81822|0.81822	0.462000|0.462000	0.41574|0.41574	CTG|CCT		0.602	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835		13	82	0	0	0	0.00245	0	13	82		
MAP3K10	4294	broad.mit.edu	37	19	40710537	40710537	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:40710537G>A	ENST00000253055.3	+	3	1297	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCGCCTCCTGGAGGGTGAGCC	0.652																																						uc002ona.2		NaN																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(1009-1011)GAG>AAG		mitogen-activated protein kinase kinase kinase							41.0	34.0	36.0					19																	40710537		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40710537G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1009G>A	19.37:g.40710537G>A	ENSP00000253055:p.Glu337Lys					MAP3K10_uc002onb.2_5'UTR	p.E337K	NM_002446	NP_002437	Q02779	M3K10_HUMAN			3	1297	+			337			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1009G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290690	0.40494	.	.	ENSG00000130758	ENST00000253055	D	0.81739	-1.53	5.13	4.08	0.47627	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.427481	0.24271	N	0.039998	T	0.63651	0.2529	N	0.12853	0.265	0.44024	D	0.996749	B	0.21753	0.06	B	0.29353	0.101	T	0.55360	-0.8153	10	0.07644	T	0.81	.	12.0966	0.53758	0.0856:0.0:0.9144:0.0	.	337	Q02779	M3K10_HUMAN	K	337	ENSP00000253055:E337K	ENSP00000253055:E337K	E	+	1	0	MAP3K10	45402377	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.580000	0.60942	1.278000	0.44430	0.650000	0.86243	GAG		0.652	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1		NM_002446		11	22	0	0	0	0.003163	0	11	22		
HIPK4	147746	broad.mit.edu	37	19	40886736	40886736	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:40886736C>A	ENST00000291823.2	-	3	1446	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	388					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)			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)			GGGGTCCCATCTTCTGCGGCC	0.662																																						uc002onp.2		NaN																	0				ovary(1)|stomach(1)	2						c.(1162-1164)GAT>TAT		homeodomain interacting protein kinase 4							62.0	68.0	66.0					19																	40886736		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886736C>A	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.1162G>T	19.37:g.40886736C>A	ENSP00000291823:p.Asp388Tyr						p.D388Y	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1447	-			388					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1162G>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111372	0.20714	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68331	-0.32	5.29	4.25	0.50352	.	0.397483	0.21424	N	0.074761	T	0.51856	0.1699	N	0.24115	0.695	0.21579	N	0.999638	P	0.38922	0.651	B	0.37833	0.259	T	0.49341	-0.8950	10	0.52906	T	0.07	.	10.9551	0.47354	0.0:0.9127:0.0:0.0873	.	388	Q8NE63	HIPK4_HUMAN	Y	388;353	ENSP00000291823:D388Y	ENSP00000291823:D388Y	D	-	1	0	HIPK4	45578576	0.851000	0.29673	0.033000	0.17914	0.016000	0.09150	3.424000	0.52764	1.462000	0.47948	0.462000	0.41574	GAT		0.662	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1		NM_144685		39	41	1	0	9.57592e-29	0.01441	1.04963e-28	39	41		
ARHGEF1	9138	broad.mit.edu	37	19	42407459	42407459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:42407459G>A	ENST00000354532.3	+	19	1889	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E563K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E596K|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E637K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E548K	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	581	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCTGCAGAAGAGCCCACAGA	0.607																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1741-1743)GAG>AAG		Rho guanine nucleotide exchange factor 1 isoform							39.0	39.0	39.0					19																	42407459		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42407459G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1741G>A	19.37:g.42407459G>A	ENSP00000346532:p.Glu581Lys					ARHGEF1_uc002ory.2_Missense_Mutation_p.E548K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E419K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E596K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E563K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E335K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E240K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E25K	p.E581K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	19	1850	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	581			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.1741G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108370	0.37242	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.92	3.92	0.45320	Dbl homology (DH) domain (5);	0.066316	0.64402	D	0.000018	T	0.74152	0.3679	M	0.62723	1.935	0.53005	D	0.999967	B;D;D;D;B	0.71674	0.04;0.991;0.995;0.998;0.152	B;P;P;D;B	0.71184	0.046;0.794;0.775;0.972;0.046	T	0.69982	-0.4997	10	0.10377	T	0.69	-24.0675	12.1813	0.54214	0.0:0.0:1.0:0.0	.	240;563;596;548;581	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	K	581;548;596;563	ENSP00000346532:E581K;ENSP00000344429:E548K;ENSP00000337261:E596K;ENSP00000367394:E563K	ENSP00000337261:E596K	E	+	1	0	ARHGEF1	47099299	0.892000	0.30473	0.993000	0.49108	0.269000	0.26545	2.049000	0.41288	2.128000	0.65567	0.456000	0.33151	GAG		0.607	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		5	21	0	0	0	0.001984	0	5	21		
ZNF574	64763	broad.mit.edu	37	19	42583877	42583877	+	Silent	SNP	C	C	T	rs113091672		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:42583877C>T	ENST00000600245.1	+	2	1774	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	ZNF574_ENST00000359044.4_Silent_p.F373F|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.F463F			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCCTGGCCTTCGGCACAGAGG	0.587																																						uc002osm.3		NaN																	0					0						c.(1117-1119)TTC>TTT		zinc finger protein 574							72.0	66.0	68.0					19																	42583877		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583877C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1119C>T	19.37:g.42583877C>T						ZNF574_uc002osk.3_Silent_p.F463F	p.F373F	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1288	+		Prostate(69;0.059)	373			C2H2-type 7.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1119C>T	CCDS12596.1																																																																																				0.587	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		7	31	0	0	0	0.006214	0	7	31		
GLTSCR1	29998	broad.mit.edu	37	19	48197590	48197590	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:48197590C>G	ENST00000396720.3	+	8	2696	c.2502C>G	c.(2500-2502)atC>atG	p.I834M	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	834										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TGCCTGGCATCTTTGTCATCC	0.721																																						uc002phh.3		NaN																	0				pancreas(3)	3						c.(2500-2502)ATC>ATG		glioma tumor suppressor candidate region gene 1							4.0	4.0	4.0					19																	48197590		1676	3806	5482	SO:0001583	missense	29998						protein binding	g.chr19:48197590C>G	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2502C>G	19.37:g.48197590C>G	ENSP00000379946:p.Ile834Met					GLTSCR1_uc002phi.3_Missense_Mutation_p.I592M	p.I834M	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2696	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	834					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.2502C>G	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	c	3.292	-0.144720	0.06627	.	.	ENSG00000063169	ENST00000396720	T	0.31769	1.48	2.11	2.11	0.27256	.	.	.	.	.	T	0.21468	0.0517	N	0.19112	0.55	0.23765	N	0.99691	P	0.47484	0.896	P	0.48454	0.578	T	0.08006	-1.0743	9	0.33940	T	0.23	.	2.8765	0.05632	0.2752:0.5651:0.0:0.1596	.	834	Q9NZM4	GSCR1_HUMAN	M	834	ENSP00000379946:I834M	ENSP00000379946:I834M	I	+	3	3	GLTSCR1	52889402	0.959000	0.32827	1.000000	0.80357	0.685000	0.39939	0.173000	0.16724	1.514000	0.48869	0.373000	0.22412	ATC		0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		NM_015711		19	9	0	0	0	0.014323	0	19	9		
PIH1D1	55011	broad.mit.edu	37	19	49954846	49954846	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:49954846G>C	ENST00000262265.5	-	0	221				PIH1D1_ENST00000596049.1_Intron|ALDH16A1_ENST00000455361.2_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000433981.2_5'Flank|ALDH16A1_ENST00000293350.4_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1						box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTGGGAAAGAGATCTAGGCGT	0.607																																						uc002pns.2		NaN																	0					0						c.(-16--12)ATCTC>ATGTC		NOP17							60.0	52.0	54.0					19																	49954846		2203	4300	6503			55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954846G>C	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.-15C>G	19.37:g.49954846G>C						PIH1D1_uc010yap.1_Translation_Start_Site|PIH1D1_uc010yaq.1_Translation_Start_Site|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank		NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	1	270	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)						B4DGN7|B4E2X7|Q9BVL0	Translation_Start_Site	SNP	ENST00000262265.5	37	c.-14C>G	CCDS12765.1																																																																																				0.607	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2		NM_017916		4	25	0	0	0	0.004482	0	4	25		
SCAF1	58506	broad.mit.edu	37	19	50155777	50155777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50155777G>A	ENST00000360565.3	+	7	2255	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	711	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCCGGCTTGACAAGTCCGA	0.711																																						uc002poq.2		NaN																	0					0						c.(2131-2133)GAC>AAC		SR-related CTD-associated factor 1							19.0	17.0	18.0					19																	50155777		2191	4297	6488	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155777G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2131G>A	19.37:g.50155777G>A	ENSP00000353769:p.Asp711Asn						p.D711N	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2255	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	711			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2131G>A	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609090	0.46527	.	.	ENSG00000126461	ENST00000360565	T	0.34472	1.36	3.56	3.56	0.40772	.	0.200086	0.24564	N	0.037456	T	0.24005	0.0581	N	0.14661	0.345	0.32181	N	0.580414	P	0.40731	0.728	B	0.41174	0.349	T	0.20371	-1.0277	9	.	.	.	-22.4815	14.0809	0.64922	0.0:0.0:1.0:0.0	.	711	Q9H7N4	SFR19_HUMAN	N	711	ENSP00000353769:D711N	.	D	+	1	0	SCAF1	54847589	0.998000	0.40836	0.676000	0.29932	0.951000	0.60555	3.083000	0.50136	1.827000	0.53221	0.561000	0.74099	GAC		0.711	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1		NM_021228		15	10	0	0	0	0.004007	0	15	10		
ZNF473	25888	broad.mit.edu	37	19	50548458	50548458	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50548458C>T	ENST00000595661.1	+	6	1253	c.758C>T	c.(757-759)tCt>tTt	p.S253F	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.S253F|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S241F|ZNF473_ENST00000391821.2_Missense_Mutation_p.S253F|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	253					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCTTCCCTTTCTGTGTATCCG	0.453																																						uc002prn.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(757-759)TCT>TTT		zinc finger protein 473							106.0	103.0	104.0					19																	50548458		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548458C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.758C>T	19.37:g.50548458C>T	ENSP00000472808:p.Ser253Phe					ZNF473_uc002prm.2_Missense_Mutation_p.S253F|ZNF473_uc010ybo.1_Missense_Mutation_p.S241F	p.S253F	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	995	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	253					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.758C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981687	0.18812	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.15256	2.44;2.44;2.44	4.17	-4.37	0.03633	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.564940	0.03791	N	0.262812	T	0.13114	0.0318	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32955	-0.9887	10	0.13470	T	0.59	0.8077	9.5075	0.39056	0.1267:0.6297:0.0:0.2437	.	253	Q8WTR7	ZN473_HUMAN	F	253;253;241	ENSP00000270617:S253F;ENSP00000375697:S253F;ENSP00000388961:S241F	ENSP00000270617:S253F	S	+	2	0	ZNF473	55240270	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.672000	0.00105	-1.002000	0.03429	-0.302000	0.09304	TCT		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1		XM_046390		43	223	0	0	0	0.01441	0	43	223		
NR1H2	7376	broad.mit.edu	37	19	50881973	50881973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:50881973C>T	ENST00000253727.5	+	6	902	c.667C>T	c.(667-669)Caa>Taa	p.Q223*	NR1H2_ENST00000598168.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000593926.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000599105.1_Nonsense_Mutation_p.Q223*|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Nonsense_Mutation_p.Q126*	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	223					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AACAGCGGCTCAAGAACTAAT	0.632																																						uc010enw.2		NaN																	0					0						c.(670-672)CAA>TAA		nuclear receptor subfamily 1, group H, member 2							48.0	56.0	53.0					19																	50881973		2116	4240	6356	SO:0001587	stop_gained	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881973C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.667C>T	19.37:g.50881973C>T	ENSP00000253727:p.Gln223*					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.Q223*|NR1H2_uc002psa.3_Nonsense_Mutation_p.Q126*	p.Q224*	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	7	946	+		all_neural(266;0.057)	223					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Nonsense_Mutation	SNP	ENST00000253727.5	37	c.670C>T	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	38	7.006486	0.97998	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	.	.	.	4.54	3.47	0.39725	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.8006	0.52124	0.1773:0.8226:0.0:0.0	.	.	.	.	X	223;126;223	.	ENSP00000253727:Q223X	Q	+	1	0	NR1H2	55573785	0.994000	0.37717	0.611000	0.29010	0.815000	0.46073	3.493000	0.53266	1.231000	0.43661	0.511000	0.50034	CAA		0.632	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2				27	30	0	0	0	0.004656	0	27	30		
ACPT	93650	broad.mit.edu	37	19	51295390	51295390	+	Missense_Mutation	SNP	G	G	A	rs201199714		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:51295390G>A	ENST00000270593.1	+	5	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	171						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGAGGCCACCGAGGCCGCCGA	0.706																																						uc002pta.1		NaN																	0					0						c.(511-513)GAG>AAG		testicular acid phosphatase precursor		G	LYS/GLU	1,4393		0,1,2196	20.0	19.0	19.0		511	4.4	1.0	19		19	1,8595		0,1,4297	yes	missense	ACPT	NM_033068.2	56	0,2,6493	AA,AG,GG		0.0116,0.0228,0.0154	possibly-damaging	171/427	51295390	2,12988	2197	4298	6495	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295390G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.511G>A	19.37:g.51295390G>A	ENSP00000270593:p.Glu171Lys						p.E171K	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	5	511	+		all_neural(266;0.057)	171			Extracellular (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.511G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	7.622	0.677072	0.14841	2.28E-4	1.16E-4	ENSG00000142513	ENST00000270593	T	0.28666	1.6	4.39	4.39	0.52855	.	0.511353	0.18145	N	0.150270	T	0.11239	0.0274	N	0.08118	0	0.40450	D	0.980137	P	0.44429	0.835	B	0.28991	0.097	T	0.15925	-1.0420	10	0.08179	T	0.78	-17.777	12.8365	0.57775	0.0:0.0:1.0:0.0	.	171	Q9BZG2	PPAT_HUMAN	K	171	ENSP00000270593:E171K	ENSP00000270593:E171K	E	+	1	0	ACPT	55987202	0.072000	0.21174	0.959000	0.39883	0.467000	0.32768	0.370000	0.20433	2.178000	0.69098	0.455000	0.32223	GAG		0.706	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1		NM_033068		6	6	0	0	0	0.00308	0	6	6		
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53855196T>C	ENST00000595091.1	+	5	1487	c.1268T>C	c.(1267-1269)aTg>aCg	p.M423T	ZNF845_ENST00000458035.1_Missense_Mutation_p.M423T			Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGATGTCATCCCTT	0.408																																						uc010ydv.1		NaN																	0					0						c.(1267-1269)ATG>ACG		zinc finger protein 845							46.0	41.0	43.0					19																	53855196		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855196T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1268T>C	19.37:g.53855196T>C	ENSP00000470005:p.Met423Thr					ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1385	+			423			C2H2-type 8.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1268T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.858806	0.00558	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	1.9	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11965	0.0291	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20806	-1.0264	9	0.20519	T	0.43	.	3.2786	0.06907	0.4659:0.0:0.2133:0.3208	.	423	Q96IR2	ZN845_HUMAN	T	423	ENSP00000388311:M423T	ENSP00000412086:M423T	M	+	2	0	ZNF845	58547008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.616000	0.00413	-1.378000	0.02120	-0.871000	0.02989	ATG		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		4	237	0	0	0	0.004482	0	4	237		
ZNF845	91664	broad.mit.edu	37	19	53855364	53855365	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53855364_53855365CA>TG	ENST00000595091.1	+	5	1655_1656	c.1436_1437CA>TG	c.(1435-1437)aCA>aTG	p.T479M	ZNF845_ENST00000458035.1_Missense_Mutation_p.T479M			Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTTG	0.381																																						uc010ydv.1		NaN																	0					0						c.(1435-1437)ACA>ATG		zinc finger protein 845																																				SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855364_53855365CA>TG	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		Exception_encountered	19.37:g.53855364_53855365delinsTG	ENSP00000470005:p.Thr479Met					ZNF845_uc010ydw.1_Missense_Mutation_p.T479M	p.T479M	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1553_1554	+			479			C2H2-type 10.			Missense_Mutation	DNP	ENST00000595091.1	37	c.1436_1437CA>TG	CCDS46170.1																																																																																				0.381	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908		6	162	0	0	0	0.004672	0	6	162		
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(1063-1065)AAG>AAA		zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A						ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K	p.K355K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1523	+			355			C2H2-type 6.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.1065G>A																																																																																					0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		8	350	0	0	0	0.013537	0	8	350		
LILRB5	10990	broad.mit.edu	37	19	54758713	54758713	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:54758713G>C	ENST00000316219.5	-	6	1247	c.1140C>G	c.(1138-1140)ttC>ttG	p.F380L	LILRB5_ENST00000450632.1_Missense_Mutation_p.F371L|LILRB5_ENST00000345866.6_Missense_Mutation_p.F280L|LILRB5_ENST00000449561.2_Missense_Mutation_p.F380L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	380	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTCATGGAGAATTCAGCCT	0.547																																						uc002qex.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1138-1140)TTC>TTG		leukocyte immunoglobulin-like receptor,							108.0	96.0	100.0					19																	54758713		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758713G>C	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1140C>G	19.37:g.54758713G>C	ENSP00000320390:p.Phe380Leu					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.F371L|LILRB5_uc002qey.2_Missense_Mutation_p.F380L|LILRB5_uc002qez.2_Missense_Mutation_p.F280L|LILRB5_uc002qfa.1_Missense_Mutation_p.F270L|LILRB5_uc010yes.1_RNA	p.F380L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1251	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		380			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1140C>G	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426701	0.43020	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00642	6.02;6.02;6.02;6.02	3.08	-0.462	0.12168	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.925560	0.08924	N	0.873989	T	0.06005	0.0156	H	0.98559	4.265	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.998;0.999;0.998	T	0.09818	-1.0657	10	0.87932	D	0	.	5.5144	0.16898	0.4076:0.0:0.5924:0.0	.	371;271;280;380;380	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	L	380;371;380;280	ENSP00000320390:F380L;ENSP00000414225:F371L;ENSP00000406478:F380L;ENSP00000263430:F280L	ENSP00000320390:F380L	F	-	3	2	LILRB5	59450525	0.114000	0.22134	0.002000	0.10522	0.022000	0.10575	1.336000	0.33850	0.005000	0.14708	0.573000	0.79308	TTC		0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2				27	87	0	0	0	0.003755	0	27	87		
PEG3	5178	broad.mit.edu	37	19	57335838	57335838	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:57335838C>T	ENST00000326441.9	-	4	549	c.186G>A	c.(184-186)aaG>aaA	p.K62K	ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.K62K|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_5'UTR|ZIM2_ENST00000599935.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	62	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATCAGGGTCTTCCGAGGCC	0.512																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(184-186)AAG>AAA		paternally expressed 3 isoform 1							86.0	84.0	85.0					19																	57335838		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335838C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.186G>A	19.37:g.57335838C>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.K62K|PEG3_uc002qnv.2_Silent_p.K62K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.K62K	p.K62K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	537	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	62			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.186G>A	CCDS12948.1																																																																																				0.512	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				12	73	0	0	0	0.004007	0	12	73		
RRM2	6241	broad.mit.edu	37	2	10263127	10263127	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:10263127G>A	ENST00000304567.5	+	2	186	c.117G>A	c.(115-117)ggG>ggA	p.G39G	RRM2_ENST00000360566.2_Silent_p.G99G|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	39					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CCCTGAGCGGGACCCGCGTCC	0.751																																						uc002rah.2		NaN																	0					0						c.(115-117)GGG>GGA		ribonucleotide reductase M2 polypeptide isoform							4.0	6.0	5.0					2																	10263127		2045	4093	6138	SO:0001819	synonymous_variant	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10263127G>A		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.117G>A	2.37:g.10263127G>A							p.G39G	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	308	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		39					B2R9B5|J3KP43|Q5WRU7	Silent	SNP	ENST00000304567.5	37	c.117G>A	CCDS1669.1																																																																																				0.751	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2				3	5	0	0	0	0.009096	0	3	5		
KCNF1	3754	broad.mit.edu	37	2	11053189	11053189	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:11053189G>A	ENST00000295082.1	+	1	1127	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	213					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGGACGCCGAGGGCAACCG	0.667																																						uc002rax.2		NaN																	0				ovary(1)	1						c.(637-639)GAG>AAG		potassium voltage-gated channel, subfamily F,							52.0	55.0	54.0					2																	11053189		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053189G>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.637G>A	2.37:g.11053189G>A	ENSP00000295082:p.Glu213Lys						p.E213K	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1127	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		213					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.637G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473345	0.43942	.	.	ENSG00000162975	ENST00000295082	D	0.98044	-4.68	5.21	4.31	0.51392	.	0.272666	0.40469	N	0.001092	D	0.93713	0.7991	L	0.49778	1.585	0.48452	D	0.999659	P	0.43662	0.814	B	0.30943	0.122	D	0.93046	0.6461	10	0.06494	T	0.89	.	14.2963	0.66316	0.0:0.2833:0.7167:0.0	.	213	Q9H3M0	KCNF1_HUMAN	K	213	ENSP00000295082:E213K	ENSP00000295082:E213K	E	+	1	0	KCNF1	10970640	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	5.594000	0.67557	1.268000	0.44264	0.655000	0.94253	GAG		0.667	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1		NM_002236		18	22	0	0	0	0.00278	0	18	22		
SMC6	79677	broad.mit.edu	37	2	17877556	17877556	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:17877556C>G	ENST00000448223.2	-	22	2801	c.2532G>C	c.(2530-2532)gaG>gaC	p.E844D	SMC6_ENST00000351948.4_Splice_Site_p.E844D|SMC6_ENST00000381272.4_Splice_Site_p.E870D|SMC6_ENST00000402989.1_Splice_Site_p.E844D	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	844					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTGAAAAACCTCTAGTTCTT	0.303																																						uc002rco.2		NaN																	0				breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(2530-2532)GAG>GAC		SMC6 protein							126.0	124.0	125.0					2																	17877556		2202	4299	6501	SO:0001630	splice_region_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17877556C>G	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2532+1G>C	2.37:g.17877556C>G						SMC6_uc010exo.2_Missense_Mutation_p.E844D|SMC6_uc002rcn.2_Missense_Mutation_p.E844D|SMC6_uc002rcp.1_Missense_Mutation_p.E870D	p.E844D	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			22	2828	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		844			Potential.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.2532G>C	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834287	0.71373	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.27	5.27	0.74061	RecF/RecN/SMC (1);	0.106801	0.64402	D	0.000004	T	0.15046	0.0363	L	0.52759	1.655	0.41340	D	0.987295	P;P	0.47034	0.889;0.615	P;P	0.47251	0.506;0.542	T	0.01133	-1.1441	9	.	.	.	.	18.8667	0.92294	0.0:1.0:0.0:0.0	.	870;844	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	D	844;844;870;844	ENSP00000404092:E844D;ENSP00000323439:E844D;ENSP00000370672:E870D;ENSP00000384539:E844D	.	E	-	3	2	SMC6	17741037	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	4.768000	0.62293	2.642000	0.89623	0.591000	0.81541	GAG		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1		NM_024624	Missense_Mutation	9	19	0	0	0	0.006214	0	9	19		
OTOF	9381	broad.mit.edu	37	2	26706333	26706333	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:26706333C>T	ENST00000272371.2	-	13	1515	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	OTOF_ENST00000403946.3_Silent_p.Q463Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	463	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTACCTTCTGGCCAGCAA	0.567																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1387-1389)CAG>CAA		otoferlin isoform a							74.0	65.0	68.0					2																	26706333		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706333C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1389G>A	2.37:g.26706333C>T							p.Q463Q	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1516	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		463			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1389G>A	CCDS1725.1																																																																																				0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				20	44	0	0	0	0.00632	0	20	44		
GCKR	2646	broad.mit.edu	37	2	27726416	27726416	+	Missense_Mutation	SNP	G	G	A	rs375163166	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27726416G>A	ENST00000264717.2	+	9	743	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	GCKR_ENST00000424318.2_Missense_Mutation_p.R37Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	227	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCAACATTCCGACAAGTAGCA	0.488													G|||	5	0.000998403	0.0	0.0	5008	,	,		19861	0.0		0.0	False		,,,				2504	0.0051					uc002rky.2		NaN																	0				ovary(2)	2						c.(679-681)CGA>CAA		glucokinase regulatory protein							101.0	82.0	88.0					2																	27726416		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27726416G>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.680G>A	2.37:g.27726416G>A	ENSP00000264717:p.Arg227Gln					GCKR_uc010ezd.2_Missense_Mutation_p.R227Q|GCKR_uc010ylu.1_Missense_Mutation_p.R37Q	p.R227Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN			9	746	+	Acute lymphoblastic leukemia(172;0.155)		227			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.680G>A	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497105	0.44352	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.77229	-1.08;-1.08	4.33	-0.772	0.10998	Sugar isomerase (SIS) (1);	0.648332	0.14270	N	0.330199	T	0.68311	0.2987	L	0.48642	1.525	0.09310	N	1	D;D;D	0.57257	0.979;0.958;0.958	P;B;B	0.45639	0.488;0.265;0.265	T	0.60464	-0.7258	10	0.54805	T	0.06	0.2478	4.4198	0.11474	0.3494:0.0:0.5031:0.1474	.	37;227;227	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	Q	227;37	ENSP00000264717:R227Q;ENSP00000409109:R37Q	ENSP00000264717:R227Q	R	+	2	0	GCKR	27579920	0.076000	0.21285	0.113000	0.21522	0.995000	0.86356	0.194000	0.17135	-0.402000	0.07633	0.462000	0.41574	CGA		0.488	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1		NM_001486		3	63	0	0	0	0.000602	0	3	63		
MRPL33	9553	broad.mit.edu	37	2	27997305	27997305	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27997305G>C	ENST00000296102.3	+	3	117	c.56G>C	c.(55-57)aGa>aCa	p.R19T	MRPL33_ENST00000379666.3_Intron|MRPL33_ENST00000483992.1_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	19					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					ATTCTGGTGAGAATGGTGAGC	0.423																																						uc002rlm.1		NaN																	0					0						c.(55-57)AGA>ACA		mitochondrial ribosomal protein L33 isoform a							136.0	142.0	140.0					2																	27997305		2203	4300	6503	SO:0001583	missense	9553				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:27997305G>C	AB051623	CCDS1761.1, CCDS33167.1	2p21	2012-09-13			ENSG00000243147	ENSG00000243147		"""Mitochondrial ribosomal proteins / large subunits"""	14487	protein-coding gene	gene with protein product		610059		C2orf1			Standard	NM_145330		Approved	RPL33L	uc002rlm.1	O75394	OTTHUMG00000097795	ENST00000296102.3:c.56G>C	2.37:g.27997305G>C	ENSP00000296102:p.Arg19Thr					MRPL33_uc002rln.1_Intron	p.R19T	NM_004891	NP_004882	O75394	RM33_HUMAN			3	117	+	Acute lymphoblastic leukemia(172;0.155)		19					Q53RZ6|Q5FVE3|Q96Q50	Missense_Mutation	SNP	ENST00000296102.3	37	c.56G>C	CCDS1761.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020763	0.54576	.	.	ENSG00000243147	ENST00000296102	.	.	.	5.75	-0.736	0.11133	Ribosomal protein, zinc-binding domain (1);	0.485170	0.22625	N	0.057655	T	0.36799	0.0980	.	.	.	0.25972	N	0.982481	P	0.37781	0.608	B	0.40285	0.325	T	0.34825	-0.9813	8	0.72032	D	0.01	-0.9605	11.9251	0.52814	0.4761:0.0:0.5239:0.0	.	19	O75394	RM33_HUMAN	T	19	.	ENSP00000296102:R19T	R	+	2	0	MRPL33	27850809	1.000000	0.71417	0.965000	0.40720	0.583000	0.36354	1.449000	0.35123	-0.364000	0.08088	-0.140000	0.14226	AGA		0.423	MRPL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215049.1		NM_004891		51	99	0	0	0	0.01441	0	51	99		
MRPL33	9553	broad.mit.edu	37	2	27997348	27997348	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:27997348G>A	ENST00000296102.3	+	3	160	c.99G>A	c.(97-99)aaG>aaA	p.K33K	MRPL33_ENST00000379666.3_Intron|MRPL33_ENST00000483992.1_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	33					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					TCAACACCAAGAGAAACCGAC	0.453																																						uc002rlm.1		NaN																	0					0						c.(97-99)AAG>AAA		mitochondrial ribosomal protein L33 isoform a							132.0	136.0	134.0					2																	27997348		2203	4300	6503	SO:0001819	synonymous_variant	9553				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr2:27997348G>A	AB051623	CCDS1761.1, CCDS33167.1	2p21	2012-09-13			ENSG00000243147	ENSG00000243147		"""Mitochondrial ribosomal proteins / large subunits"""	14487	protein-coding gene	gene with protein product		610059		C2orf1			Standard	NM_145330		Approved	RPL33L	uc002rlm.1	O75394	OTTHUMG00000097795	ENST00000296102.3:c.99G>A	2.37:g.27997348G>A						MRPL33_uc002rln.1_Intron	p.K33K	NM_004891	NP_004882	O75394	RM33_HUMAN			3	160	+	Acute lymphoblastic leukemia(172;0.155)		33					Q53RZ6|Q5FVE3|Q96Q50	Silent	SNP	ENST00000296102.3	37	c.99G>A	CCDS1761.1																																																																																				0.453	MRPL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215049.1		NM_004891		51	88	0	0	0	0.01441	0	51	88		
CLIP4	79745	broad.mit.edu	37	2	29386751	29386751	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:29386751T>G	ENST00000320081.5	+	13	1844	c.1589T>G	c.(1588-1590)gTt>gGt	p.V530G	CLIP4_ENST00000401605.1_Missense_Mutation_p.V530G|CLIP4_ENST00000404424.1_Missense_Mutation_p.V530G|CLIP4_ENST00000401617.2_Missense_Mutation_p.V423G	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	530	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GATGGTTCAGTTGGAGGTGTG	0.378																																						uc002rmv.2		NaN																	0				ovary(1)	1						c.(1588-1590)GTT>GGT		CAP-GLY domain containing linker protein family,							144.0	134.0	137.0					2																	29386751		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29386751T>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1589T>G	2.37:g.29386751T>G	ENSP00000327009:p.Val530Gly					CLIP4_uc002rmu.2_Missense_Mutation_p.V530G|CLIP4_uc002rmw.2_RNA	p.V530G	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			13	1828	+	Acute lymphoblastic leukemia(172;0.155)		530			CAP-Gly 2.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1589T>G	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067990	0.76301	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.06	6.06	0.98353	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99533	1.0961	10	0.87932	D	0	.	15.6071	0.76682	0.0:0.0:0.0:1.0	.	530	Q8N3C7	CLIP4_HUMAN	G	530;423;530;532;530;548;490	ENSP00000384242:V530G;ENSP00000385148:V423G;ENSP00000385594:V530G;ENSP00000327009:V530G	ENSP00000327009:V530G	V	+	2	0	CLIP4	29240255	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.952000	0.75989	2.323000	0.78572	0.528000	0.53228	GTT		0.378	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2		NM_024692		19	109	0	0	0	0.014323	0	19	109		
SRBD1	55133	broad.mit.edu	37	2	45616464	45616464	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:45616464G>A	ENST00000263736.4	-	21	3035	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Silent_p.L510L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	991	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACACCCGAATGAGGTCCAGAG	0.448																																						uc002rus.2		NaN																	0				central_nervous_system(1)	1						c.(2971-2973)CTC>CTT		S1 RNA binding domain 1							83.0	83.0	83.0					2																	45616464		2203	4299	6502	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45616464G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2973C>T	2.37:g.45616464G>A						SRBD1_uc010yoc.1_Silent_p.L510L	p.L991L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		21	3049	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	991			S1 motif.		Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.2973C>T	CCDS1823.1																																																																																				0.448	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079		37	69	0	0	0	0.01441	0	37	69		
TTC7A	57217	broad.mit.edu	37	2	47277133	47277133	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:47277133G>T	ENST00000319190.5	+	17	2333	c.1965G>T	c.(1963-1965)aaG>aaT	p.K655N	TTC7A_ENST00000394850.2_Missense_Mutation_p.K679N|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.K301N|TTC7A_ENST00000409245.1_Missense_Mutation_p.K621N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	655					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCACCATGAAGAAGCAGAGTG	0.572																																						uc002rvo.2		NaN																	0				breast(1)|skin(1)	2						c.(1963-1965)AAG>AAT		tetratricopeptide repeat domain 7A							101.0	85.0	90.0					2																	47277133		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47277133G>T	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1965G>T	2.37:g.47277133G>T	ENSP00000316699:p.Lys655Asn					TTC7A_uc002rvm.2_Missense_Mutation_p.K621N|TTC7A_uc002rvn.1_Missense_Mutation_p.K497N|TTC7A_uc010fbb.2_Missense_Mutation_p.K679N|TTC7A_uc010fbc.2_Missense_Mutation_p.K301N|TTC7A_uc002rvp.2_Missense_Mutation_p.K536N|TTC7A_uc002rvq.2_Missense_Mutation_p.K395N|TTC7A_uc002rvr.2_Missense_Mutation_p.K104N	p.K655N	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		17	2333	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	655					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1965G>T	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102334	0.56183	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.31510	1.9;1.91;1.5;1.49	5.01	4.13	0.48395	.	0.378995	0.32488	N	0.006031	T	0.29850	0.0746	L	0.36672	1.1	0.80722	D	1	D;B;P;P;B	0.57899	0.981;0.013;0.704;0.933;0.05	P;B;B;P;B	0.49637	0.617;0.01;0.255;0.518;0.022	T	0.02132	-1.1208	10	0.28530	T	0.3	-40.8151	10.4607	0.44578	0.0909:0.0:0.9091:0.0	.	679;621;655;483;621	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	N	621;655;679;301;482	ENSP00000386307:K621N;ENSP00000316699:K655N;ENSP00000378320:K679N;ENSP00000263737:K301N	ENSP00000263737:K301N	K	+	3	2	TTC7A	47130637	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.389000	0.44407	1.344000	0.45657	0.655000	0.94253	AAG		0.572	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2		XM_372927		12	34	1	0	3.41278e-10	0.00499	3.63668e-10	12	34		
FAM161A	84140	broad.mit.edu	37	2	62066591	62066591	+	Silent	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:62066591G>T	ENST00000405894.3	-	3	1649	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	FAM161A_ENST00000404929.1_Silent_p.P516P	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	516					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGATACCGTGGGCACGGGAG	0.498																																						uc010ypo.1		NaN																	0				large_intestine(2)|ovary(1)	3						c.(1546-1548)CCC>CCA		hypothetical protein LOC84140							99.0	102.0	101.0					2																	62066591		1979	4175	6154	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62066591G>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1548C>A	2.37:g.62066591G>T						FAM161A_uc002sbm.3_Silent_p.P516P|FAM161A_uc002sbn.3_Silent_p.P326P|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.P407P	p.P516P	NM_032180	NP_115556	Q3B820	F161A_HUMAN			3	1650	-			516					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.1548C>A	CCDS42687.2																																																																																				0.498	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2		NM_032180		30	82	1	0	1.57019e-19	0.007835	1.70715e-19	30	82		
ARHGAP25	9938	broad.mit.edu	37	2	69002384	69002384	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:69002384G>A	ENST00000295381.3	+	2	512	c.93G>A	c.(91-93)caG>caA	p.Q31Q	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.Q31Q|ARHGAP25_ENST00000409202.3_Silent_p.Q31Q|ARHGAP25_ENST00000497079.1_Silent_p.Q24Q|ARHGAP25_ENST00000409030.3_Silent_p.Q24Q|ARHGAP25_ENST00000409220.1_Silent_p.Q24Q|ARHGAP25_ENST00000544262.1_Silent_p.Q5Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	31					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGGCGAGCAGATGGCTGCCT	0.597																																						uc002seu.2		NaN																	0				ovary(2)|breast(2)	4						c.(91-93)CAG>CAA		Rho GTPase activating protein 25 isoform a							222.0	223.0	223.0					2																	69002384		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002384G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.93G>A	2.37:g.69002384G>A						ARHGAP25_uc010yqk.1_Silent_p.Q5Q|ARHGAP25_uc010fdg.2_Silent_p.Q31Q|ARHGAP25_uc010yql.1_Silent_p.Q31Q|ARHGAP25_uc002sev.2_Silent_p.Q24Q|ARHGAP25_uc002sew.2_Silent_p.Q24Q|ARHGAP25_uc002sex.2_Silent_p.Q24Q|ARHGAP25_uc010fdh.1_RNA	p.Q31Q	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			2	457	+			31					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.93G>A																																																																																					0.597	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		178	324	0	0	0	0.01441	0	178	324		
DQX1	165545	broad.mit.edu	37	2	74754468	74754468	+	5'Flank	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:74754468C>G	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.L328F|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TAGTGATAGTCAAGTCTACAC	0.527																																						uc010yrx.1		NaN																	0					0						c.(1153-1155)TTG>TTC		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							56.0	60.0	59.0					2																	74754468		1925	4126	6051	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754468C>G	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754468C>G	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.L61F|AUP1_uc002smf.2_Missense_Mutation_p.L328F|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.L237F|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank	p.L385F			Q9Y679	AUP1_HUMAN			9	1281	-			394			Cytoplasmic (Potential).|CUE.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1155G>C	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485501	0.26686	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.16	3.21	0.36854	Ubiquitin system component Cue (3);	0.274691	0.33144	N	0.005228	T	0.53850	0.1822	L	0.54323	1.7	0.33646	D	0.607888	D;D;B	0.58970	0.984;0.984;0.378	P;P;B	0.60541	0.876;0.876;0.192	T	0.63954	-0.6520	9	0.48119	T	0.1	-7.832	6.2805	0.21005	0.0:0.7757:0.0:0.2243	.	385;394;328	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	F	328;392;330	.	ENSP00000258081:L392F	L	-	3	2	AUP1	74607976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.539000	0.36104	1.390000	0.46547	0.655000	0.94253	TTG		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		11	27	0	0	0	0.001855	0	11	27		
MRPL19	9801	broad.mit.edu	37	2	75879657	75879657	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:75879657C>G	ENST00000393909.2	+	4	374	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V	MRPL19_ENST00000358788.6_Missense_Mutation_p.L117V|MRPL19_ENST00000409374.1_Missense_Mutation_p.L117V	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	117					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						AGGAAGTATTCTTCGTGTTAC	0.383																																						uc002snl.2		NaN																	0					0						c.(349-351)CTT>GTT		mitochondrial ribosomal protein L19 precursor							126.0	115.0	119.0					2																	75879657		1832	4077	5909	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879657C>G	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.349C>G	2.37:g.75879657C>G	ENSP00000377486:p.Leu117Val					MRPL19_uc002snm.1_Missense_Mutation_p.L117V	p.L117V	NM_014763	NP_055578	P49406	RM19_HUMAN			4	374	+			117					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.349C>G	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195391	0.58126	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	N	0.10733	0.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52358	-0.8586	9	0.20046	T	0.44	-26.2384	17.0358	0.86474	0.0:1.0:0.0:0.0	.	117	P49406	RM19_HUMAN	V	117	.	ENSP00000377486:L117V	L	+	1	0	MRPL19	75733165	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.397000	0.66302	2.708000	0.92522	0.650000	0.86243	CTT		0.383	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1		NM_014763		32	72	0	0	0	0.004289	0	32	72		
THNSL2	55258	broad.mit.edu	37	2	88485580	88485580	+	Missense_Mutation	SNP	C	C	T	rs367584313		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:88485580C>T	ENST00000324166.5	+	8	3084	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000358591.2_Missense_Mutation_p.R465W|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	465					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCTGATGCTTCGGGACACCAT	0.592																																						uc002ssz.3		NaN																	0				ovary(1)	1						c.(1393-1395)CGG>TGG		threonine synthase-like 2		C	TRP/ARG	1,4373		0,1,2186	51.0	60.0	57.0		1393	5.1	0.9	2		57	0,8568		0,0,4284	no	missense	THNSL2	NM_018271.4	101	0,1,6470	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging	465/485	88485580	1,12941	2187	4284	6471	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88485580C>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1393C>T	2.37:g.88485580C>T	ENSP00000327323:p.Arg465Trp					THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_3'UTR|THNSL2_uc002ssx.3_3'UTR|THNSL2_uc002sta.3_3'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.R465W|THNSL2_uc010fhe.2_3'UTR	p.R465W	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			9	1546	+			465					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.1393C>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462417	0.63513	2.29E-4	0.0	ENSG00000144115	ENST00000358591;ENST00000324166	T;T	0.15952	2.38;2.38	5.98	5.07	0.68467	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.056139	0.64402	D	0.000002	T	0.44850	0.1313	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.44787	-0.9305	10	0.87932	D	0	.	15.7061	0.77583	0.1371:0.8629:0.0:0.0	.	465	Q86YJ6	THNS2_HUMAN	W	465	ENSP00000351402:R465W;ENSP00000327323:R465W	ENSP00000327323:R465W	R	+	1	2	THNSL2	88266695	0.732000	0.28121	0.905000	0.35620	0.254000	0.26022	0.470000	0.22084	2.838000	0.97847	0.655000	0.94253	CGG		0.592	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1		NM_018271		3	7	0	0	0	0.009096	0	3	7		
TGFBRAP1	9392	broad.mit.edu	37	2	105924617	105924617	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:105924617G>A	ENST00000393359.2	-	2	568	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.H48Y			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	48	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AACAGGAAGTGGTAGACGAAG	0.612																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(142-144)CAC>TAC		transforming growth factor, beta receptor							43.0	37.0	39.0					2																	105924617		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924617G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.142C>T	2.37:g.105924617G>A	ENSP00000377027:p.His48Tyr					TGFBRAP1_uc002tcr.3_Missense_Mutation_p.H48Y	p.H48Y	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			2	226	-			48			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.142C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124542	0.77436	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.51325	0.71;0.71	4.82	4.82	0.62117	Citron-like (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.52266	1.64	0.80722	D	1	P	0.37207	0.587	B	0.39027	0.288	T	0.35525	-0.9785	10	0.02654	T	1	-37.9621	18.4493	0.90697	0.0:0.0:1.0:0.0	.	48	Q8WUH2	TGFA1_HUMAN	Y	48	ENSP00000377027:H48Y;ENSP00000258449:H48Y	ENSP00000258449:H48Y	H	-	1	0	TGFBRAP1	105291049	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.601000	0.98297	2.654000	0.90174	0.655000	0.94253	CAC		0.612	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257		4	42	0	0	0	0.000602	0	4	42		
SULT1C4	27233	broad.mit.edu	37	2	108994856	108994856	+	Silent	SNP	C	C	T	rs182283560	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:108994856C>T	ENST00000272452.2	+	1	389	c.63C>T	c.(61-63)taC>taT	p.Y21Y	SULT1C4_ENST00000409309.3_Silent_p.Y21Y	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	21					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GTGTCAACTACGTGAAGGGAA	0.438													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		21248	0.0		0.001	False		,,,				2504	0.0					uc002tea.1		NaN																	0					0						c.(61-63)TAC>TAT		sulfotransferase family, cytosolic, 1C, member		C		3,4403	6.2+/-15.9	0,3,2200	196.0	201.0	199.0		63	-10.1	0.0	2		199	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SULT1C4	NM_006588.2		0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384		21/303	108994856	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108994856C>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.63C>T	2.37:g.108994856C>T						SULT1C4_uc002tdz.2_Silent_p.Y21Y|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.Y21Y	p.Y21Y	NM_006588	NP_006579	O75897	ST1C4_HUMAN			1	436	+			21					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.63C>T	CCDS2077.1																																																																																				0.438	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1		NM_006588		61	133	0	0	0	0.01441	0	61	133		
NEB	4703	broad.mit.edu	37	2	152381062	152381062	+	Missense_Mutation	SNP	C	C	G	rs544200886		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:152381062C>G	ENST00000172853.10	-	124	17385	c.17238G>C	c.(17236-17238)aaG>aaC	p.K5746N	NEB_ENST00000427231.2_Missense_Mutation_p.K7447N|NEB_ENST00000409198.1_Missense_Mutation_p.K5746N|NEB_ENST00000397345.3_Missense_Mutation_p.K7447N|NEB_ENST00000604864.1_Missense_Mutation_p.K7447N|NEB_ENST00000603639.1_Missense_Mutation_p.K7447N			P20929	NEBU_HUMAN	nebulin	5746					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTGGCCTTCTTGATGTCTG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.001					uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(17236-17238)AAG>AAC		nebulin isoform 3							211.0	212.0	212.0					2																	152381062		2014	4204	6218	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152381062C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17238G>C	2.37:g.152381062C>G	ENSP00000172853:p.Lys5746Asn					NEB_uc002txr.2_Missense_Mutation_p.K2169N|NEB_uc002txt.3_Missense_Mutation_p.K251N	p.K5746N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	124	17429	-			5746			Nebulin 157.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17238G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.279670|4.279670	0.80692|0.80692	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.48522|.	0.81;1.38;1.38;0.81;0.81|.	5.45|5.45	4.58|4.58	0.56647|0.56647	.|.	0.206680|.	0.50627|.	D|.	0.000120|.	T|T	0.61060|0.61060	0.2317|0.2317	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	P;D;D|.	0.64830|.	0.949;0.967;0.994|.	D;P;D|.	0.70716|.	0.911;0.879;0.97|.	T|T	0.58312|0.58312	-0.7658|-0.7658	10|5	0.22706|.	T|.	0.39|.	.|.	14.1846|14.1846	0.65598|0.65598	0.0:0.9278:0.0:0.0722|0.0:0.9278:0.0:0.0722	.|.	5746;7447;2177|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|T	5746;7447;7447;1795;2177;5746|70	ENSP00000386259:K5746N;ENSP00000380505:K7447N;ENSP00000416578:K7447N;ENSP00000410961:K2177N;ENSP00000172853:K5746N|.	ENSP00000172853:K5746N|.	K|R	-|-	3|2	2|0	NEB|NEB	152089308|152089308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.996000|3.996000	0.57009|0.57009	1.295000|1.295000	0.44724|0.44724	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		73	124	0	0	0	0.01441	0	73	124		
XIRP2	129446	broad.mit.edu	37	2	168103798	168103798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:168103798C>T	ENST00000409195.1	+	9	5985	c.5896C>T	c.(5896-5898)Cag>Tag	p.Q1966*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1966*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q1744*|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1791					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATATTCATCAGGTTGCTGT	0.448																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(5896-5898)CAG>TAG		xin actin-binding repeat containing 2 isoform 1							43.0	41.0	42.0					2																	168103798		1905	4118	6023	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103798C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5896C>T	2.37:g.168103798C>T	ENSP00000386840:p.Gln1966*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.Q1791*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.Q1744*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.Q1966*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5914	+			1791					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.5896C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	42	9.281580	0.99123	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.2	4.31	0.51392	.	0.379899	0.29594	N	0.011709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	0.1029	13.9382	0.64039	0.1534:0.8466:0.0:0.0	.	.	.	.	X	1966;1966;1744	.	ENSP00000295237:Q1966X	Q	+	1	0	XIRP2	167812044	0.001000	0.12720	0.208000	0.23602	0.067000	0.16453	1.063000	0.30567	1.393000	0.46605	0.650000	0.86243	CAG		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		18	20	0	0	0	0.006122	0	18	20		
BBS5	129880	broad.mit.edu	37	2	170356086	170356086	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:170356086T>C	ENST00000295240.3	+	9	1148	c.772T>C	c.(772-774)Tct>Cct	p.S258P	BBS5_ENST00000392663.2_Missense_Mutation_p.S237P|BBS5_ENST00000554017.1_Missense_Mutation_p.S258P|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.S258P	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	258					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAAAGTCTATTCTGCCAGTCC	0.333									Bardet-Biedl syndrome																													uc010zdh.1		NaN																	0					0						c.(772-774)TCT>CCT		Bardet-Biedl syndrome 5							132.0	134.0	133.0					2																	170356086		2203	4300	6503	SO:0001583	missense	10324		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170356086T>C	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.772T>C	2.37:g.170356086T>C	ENSP00000295240:p.Ser258Pro					BBS5_uc002uet.2_Missense_Mutation_p.S258P|BBS5_uc010fpw.2_Missense_Mutation_p.S237P	p.S258P	NM_152384	NP_689597	O60662	KBTBA_HUMAN			9	830	+			Error:Variant_position_missing_in_O60662_after_alignment					D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.772T>C	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572365	0.86542	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.80214	-0.92;-0.92;-1.35;-0.92	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.972;0.974;0.985	D	0.88031	0.2775	10	0.33141	T	0.24	-16.4848	16.0271	0.80551	0.0:0.0:0.0:1.0	.	258;237;258	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	P	258;258;237;258	ENSP00000295240:S258P;ENSP00000452313:S258P;ENSP00000376431:S237P;ENSP00000424363:S258P	ENSP00000295240:S258P	S	+	1	0	BBS5;RP11-724O16.1	170064332	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.980000	0.88113	2.188000	0.69820	0.482000	0.46254	TCT		0.333	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2		NM_152384		3	120	0	0	0	0.000602	0	3	120		
METAP1D	254042	broad.mit.edu	37	2	172928567	172928567	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:172928567C>G	ENST00000315796.4	+	3	714	c.327C>G	c.(325-327)ctC>ctG	p.L109L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	109					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ACGTCCTCCTCTTGGCTGGGA	0.488																																						uc002uhk.2		NaN																	0					0						c.(325-327)CTC>CTG		methionine aminopeptidase 1D precursor							66.0	59.0	62.0					2																	172928567		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928567C>G	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.327C>G	2.37:g.172928567C>G						MAP1D_uc010zdw.1_5'UTR	p.L109L	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	400	+			109					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.327C>G	CCDS2246.1																																																																																				0.488	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2		NM_199227		23	32	0	0	0	0.009535	0	23	32		
ASNSD1	54529	broad.mit.edu	37	2	190531483	190531483	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:190531483G>A	ENST00000260952.4	+	4	1038	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	209					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAATATTATTGAAGAAAATGT	0.338																																						uc002uqt.2		NaN																	0				ovary(2)|skin(1)	3						c.(625-627)GAA>AAA		asparagine synthetase domain containing 1							44.0	48.0	47.0					2																	190531483		2197	4296	6493	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531483G>A	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.625G>A	2.37:g.190531483G>A	ENSP00000260952:p.Glu209Lys						p.E209K	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1059	+			209					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.625G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	2.872	-0.233666	0.05983	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.30448	1.53;1.54	6.17	0.288	0.15719	.	0.542949	0.20929	N	0.083128	T	0.12902	0.0313	N	0.05574	-0.02	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26224	-1.0109	10	0.23302	T	0.38	0.954	8.2642	0.31804	0.1105:0.4027:0.4868:0.0	.	209	Q9NWL6	ASND1_HUMAN	K	209	ENSP00000260952:E209K;ENSP00000406790:E209K	ENSP00000260952:E209K	E	+	1	0	ASNSD1	190239728	0.435000	0.25577	0.004000	0.12327	0.084000	0.17831	1.281000	0.33214	0.295000	0.22570	0.655000	0.94253	GAA		0.338	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3		NM_019048		15	52	0	0	0	0.004007	0	15	52		
STAT1	6772	broad.mit.edu	37	2	191841752	191841752	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:191841752C>G	ENST00000361099.3	-	22	2261		c.e22-1		STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000392322.3_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AAGTCAGGTTCTAAAAAGGAG	0.403																																						uc002usj.2		NaN																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.e22-1		signal transducer and activator of transcription	Fludarabine(DB01073)						73.0	70.0	71.0					2																	191841752		2203	4300	6503	SO:0001630	splice_region_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191841752C>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1874-1G>C	2.37:g.191841752C>G						STAT1_uc010fse.1_Splice_Site_p.E625_splice|STAT1_uc002usk.2_Splice_Site_p.E625_splice|STAT1_uc002usl.2_Splice_Site_p.E627_splice	p.E625_splice	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		22	2262	-								A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Splice_Site	SNP	ENST00000361099.3	37	c.1874_splice	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	9.734	1.163099	0.21538	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5104	0.95139	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT1	191549997	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	3.248000	0.51430	2.847000	0.97988	0.655000	0.94253	.		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3		NM_007315	Intron	23	45	0	0	0	0.004656	0	23	45		
CFLAR	8837	broad.mit.edu	37	2	202025318	202025318	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:202025318G>A	ENST00000309955.3	+	9	1472	c.957G>A	c.(955-957)caG>caA	p.Q319Q	CFLAR_ENST00000443227.1_Silent_p.Q223Q|CFLAR_ENST00000341582.6_Silent_p.Q284Q|CFLAR_ENST00000479953.2_Silent_p.Q223Q|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Silent_p.Q319Q|CFLAR_ENST00000423241.2_Silent_p.Q319Q|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Silent_p.Q319Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	319	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAGGCTCCCAGAGTGTGTATG	0.537																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NaN																	0					0						c.(955-957)CAG>CAA		CASP8 and FADD-like apoptosis regulator isoform							154.0	138.0	143.0					2																	202025318		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025318G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.957G>A	2.37:g.202025318G>A						CFLAR_uc010zhk.1_Silent_p.Q223Q|CFLAR_uc002uxc.3_Silent_p.Q284Q|CFLAR_uc010zhl.1_Silent_p.Q223Q|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.Q319Q|CFLAR_uc002uxf.2_Silent_p.Q319Q|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.Q223Q|CFLAR_uc010fsz.2_Silent_p.Q74Q|CFLAR_uc002uxg.2_Silent_p.Q74Q|uc002uxh.1_5'Flank	p.Q319Q	NM_003879	NP_003870	O15519	CFLAR_HUMAN			9	1409	+			319			Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.957G>A	CCDS2337.1																																																																																				0.537	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3		NM_003879		42	76	0	0	0	0.01441	0	42	76		
NBEAL1	65065	broad.mit.edu	37	2	204016211	204016211	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:204016211A>T	ENST00000449802.1	+	34	5732	c.5399A>T	c.(5398-5400)aAg>aTg	p.K1800M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1800										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTCACTGGAAGCTAGCTAAT	0.313																																						uc002uzt.3		NaN																	0				ovary(1)|skin(1)	2						c.(5398-5400)AAG>ATG		neurobeachin-like 1 isoform 3							79.0	72.0	74.0					2																	204016211		1806	4073	5879	SO:0001583	missense	65065						binding	g.chr2:204016211A>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5399A>T	2.37:g.204016211A>T	ENSP00000399903:p.Lys1800Met					NBEAL1_uc002uzs.3_Missense_Mutation_p.K510M	p.K1800M	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			34	5732	+			1800					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5399A>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.851847	0.71719	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.64260	-0.09	5.04	5.04	0.67666	.	0.234859	0.40469	N	0.001090	T	0.76212	0.3956	M	0.77820	2.39	0.47183	D	0.999344	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.79662	-0.1710	10	0.59425	D	0.04	.	14.4629	0.67465	1.0:0.0:0.0:0.0	.	1800;1789	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	M	1800	ENSP00000399903:K1800M	ENSP00000344985:K1800M	K	+	2	0	NBEAL1	203724456	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.795000	0.69074	1.897000	0.54924	0.378000	0.23410	AAG		0.313	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4				8	41	0	0	0	0.010729	0	8	41		
ASIC4	55515	broad.mit.edu	37	2	220400035	220400035	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:220400035G>C	ENST00000347842.3	+	5	1556	c.1542G>C	c.(1540-1542)gaG>gaC	p.E514D	ASIC4_ENST00000358078.4_Missense_Mutation_p.E533D	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	514					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ACCGCAACGAGACCTACATAC	0.582																																						uc002vma.2		NaN																	0				ovary(2)	2						c.(1540-1542)GAG>GAC		amiloride-sensitive cation channel 4 isoform 2							46.0	32.0	36.0					2																	220400035		2202	4300	6502	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220400035G>C	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1542G>C	2.37:g.220400035G>C	ENSP00000326627:p.Glu514Asp					ACCN4_uc002vlz.2_Missense_Mutation_p.E533D|ACCN4_uc002vmb.2_Missense_Mutation_p.E187D	p.E514D	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	5	1556	+		Renal(207;0.0183)	514			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1542G>C	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022223	0.75275	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.67171	-0.25;-0.25	4.67	2.88	0.33553	.	0.152327	0.64402	D	0.000018	T	0.74038	0.3664	M	0.61703	1.905	0.49798	D	0.999827	P;P	0.45634	0.788;0.863	P;P	0.58172	0.707;0.834	T	0.72384	-0.4310	10	0.44086	T	0.13	-22.1993	11.1551	0.48482	0.1504:0.0:0.8496:0.0	.	514;533	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	D	514;533	ENSP00000326627:E514D;ENSP00000350786:E533D	ENSP00000326627:E514D	E	+	3	2	ACCN4	220108279	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.233000	0.65337	0.712000	0.32039	-0.142000	0.14014	GAG		0.582	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1		NM_018674		9	9	0	0	0	0.004482	0	9	9		
SP140	11262	broad.mit.edu	37	2	231110622	231110622	+	Nonsense_Mutation	SNP	G	G	T	rs267599253		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr2:231110622G>T	ENST00000392045.3	+	7	823	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	SP140_ENST00000420434.3_Nonsense_Mutation_p.E237*|SP140_ENST00000417495.3_Nonsense_Mutation_p.E234*|SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Intron|SP140_ENST00000350136.5_Nonsense_Mutation_p.E217*	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	237					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAATCAGAAGAAATGCCCAA	0.373																																						uc002vql.2		NaN																	0					0						c.(709-711)GAA>TAA		SP140 nuclear body protein isoform 1							135.0	119.0	124.0					2																	231110622		1898	4118	6016	SO:0001587	stop_gained	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231110622G>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.709G>T	2.37:g.231110622G>T	ENSP00000375899:p.Glu237*					SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Nonsense_Mutation_p.E237*|SP140_uc002vqn.2_Nonsense_Mutation_p.E234*|SP140_uc002vqm.2_Intron|SP140_uc010fxl.2_Nonsense_Mutation_p.E237*	p.E237*	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	7	824	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	237					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Nonsense_Mutation	SNP	ENST00000392045.3	37	c.709G>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628804	0.87560	.	.	ENSG00000079263	ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000420434	.	.	.	2.79	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-6.3648	9.2419	0.37502	0.0:0.0:1.0:0.0	.	.	.	.	X	237;217;237;234;237	.	ENSP00000345846:E217X	E	+	1	0	SP140	230818866	0.997000	0.39634	0.862000	0.33874	0.161000	0.22273	1.278000	0.33179	1.874000	0.54306	0.563000	0.77884	GAA		0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1		NM_007237		11	52	1	0	2.94398e-08	0.007413	3.09407e-08	11	52		
PSMF1	9491	broad.mit.edu	37	20	1106163	1106163	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:1106163C>T	ENST00000335877.6	+	2	328	c.152C>T	c.(151-153)tCa>tTa	p.S51L	PSMF1_ENST00000246015.4_Missense_Mutation_p.S51L|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.S51L|PSMF1_ENST00000438768.2_Missense_Mutation_p.S51L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	51	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GATAAGAAGTCAGAACTGCTG	0.463																																						uc002wel.3		NaN																	0					0						c.(151-153)TCA>TTA		proteasome inhibitor subunit 1							95.0	85.0	88.0					20																	1106163		2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1106163C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.152C>T	20.37:g.1106163C>T	ENSP00000338039:p.Ser51Leu					PSMF1_uc010zpo.1_5'UTR|PSMF1_uc002wem.3_Missense_Mutation_p.S51L|PSMF1_uc010zpp.1_Missense_Mutation_p.S51L|PSMF1_uc002wen.3_Missense_Mutation_p.S51L	p.S51L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			3	320	+			51					A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.152C>T	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475601	0.84640	.	.	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.87	4.87	0.63330	.	0.085714	0.49305	D	0.000159	T	0.66287	0.2774	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.75484	0.906;0.986;0.986	T	0.68965	-0.5270	10	0.66056	D	0.02	-6.4257	15.0252	0.71663	0.0:1.0:0.0:0.0	.	51;51;51	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	L	51	ENSP00000327704:S51L;ENSP00000371324:S51L;ENSP00000246015:S51L;ENSP00000338039:S51L;ENSP00000401404:S51L	ENSP00000246015:S51L	S	+	2	0	PSMF1	1054163	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.067000	0.64357	2.527000	0.85204	0.585000	0.79938	TCA		0.463	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2		NM_178578		13	37	0	0	0	0.007413	0	13	37		
TM9SF4	9777	broad.mit.edu	37	20	30753246	30753246	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:30753246G>C	ENST00000398022.2	+	18	2163	c.1928G>C	c.(1927-1929)tGa>tCa	p.*643S	TM9SF4_ENST00000217315.5_Nonstop_Mutation_p.*626S	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	0						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGATAGACTGATTGGAGTGG	0.537																																						uc002wxj.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(1927-1929)TGA>TCA		transmembrane 9 superfamily protein member 4							134.0	112.0	119.0					20																	30753246		2203	4300	6503	SO:0001578	stop_lost	9777					integral to membrane		g.chr20:30753246G>C	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1928G>C	20.37:g.30753246G>C	ENSP00000381104:p.*643Serext*27					TM9SF4_uc010zts.1_Nonstop_Mutation_p.*550S|TM9SF4_uc002wxk.2_Nonstop_Mutation_p.*626S|TM9SF4_uc010gdz.2_Nonstop_Mutation_p.*522S	p.*643S	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		18	2163	+			643					B0QYT7|Q9NUA3	Nonstop_Mutation	SNP	ENST00000398022.2	37	c.1928G>C	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221654	0.58560	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	.	.	.	4.91	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1661	0.48543	0.1442:0.0:0.8558:0.0	.	.	.	.	S	643;626	.	.	X	+	2	2	TM9SF4	30216907	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	5.235000	0.65348	0.678000	0.31325	0.555000	0.69702	TGA		0.537	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1		NM_014742		26	40	0	0	0	0.010818	0	26	40		
POFUT1	23509	broad.mit.edu	37	20	30816133	30816133	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:30816133G>A	ENST00000375749.3	+	5	672	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_5'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	204					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCTAGAGGAACACAGGCC	0.557																																						uc002wxp.2		NaN																	0				breast(1)	1						c.(610-612)GAA>AAA		protein O-fucosyltransferase 1 isoform 1							90.0	85.0	87.0					20																	30816133		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30816133G>A	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.610G>A	20.37:g.30816133G>A	ENSP00000364902:p.Glu204Lys					POFUT1_uc010ztt.1_Missense_Mutation_p.E96K|POFUT1_uc010ztu.1_5'UTR	p.E204K	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		5	659	+			204					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.610G>A	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722381	0.89298	.	.	ENSG00000101346	ENST00000375749	T	0.31247	1.5	6.06	6.06	0.98353	.	0.044252	0.85682	D	0.000000	T	0.49966	0.1588	M	0.71036	2.16	0.80722	D	1	P	0.51057	0.941	P	0.51657	0.676	T	0.46857	-0.9161	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	204	Q9H488	OFUT1_HUMAN	K	204	ENSP00000364902:E204K	ENSP00000364902:E204K	E	+	1	0	POFUT1	30279794	1.000000	0.71417	0.988000	0.46212	0.430000	0.31655	9.827000	0.99397	2.882000	0.98803	0.655000	0.94253	GAA		0.557	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1		NM_015352		20	40	0	0	0	0.014323	0	20	40		
PLCG1	5335	broad.mit.edu	37	20	39802354	39802354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:39802354G>A	ENST00000373271.1	+	29	3862	c.3457G>A	c.(3457-3459)Gaa>Aaa	p.E1153K	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.E1153K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1153K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1153	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)				CAGTAACCCTGAATTTGCCTT	0.507											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xjp.1		NaN																	0				lung(3)|breast(3)|skin(2)	8						c.(3457-3459)GAA>AAA		phospholipase C, gamma 1 isoform b							146.0	121.0	129.0					20																	39802354		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.chr20:39802354G>A	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.3457G>A	20.37:g.39802354G>A	ENSP00000362368:p.Glu1153Lys		OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_uc002xjo.1_Missense_Mutation_p.E1153K|PLCG1_uc010zwe.1_Missense_Mutation_p.E818K	p.E1153K	NM_182811	NP_877963	P19174	PLCG1_HUMAN			29	3578	+		Myeloproliferative disorder(115;0.00878)	1153			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3457G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085206	0.55861	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.69926	-0.44;-0.44;-0.44	5.51	4.57	0.56435	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.171334	0.49916	D	0.000125	T	0.72036	0.3411	M	0.74258	2.255	0.45307	D	0.998306	P;P;P	0.41188	0.523;0.741;0.578	B;B;P	0.46208	0.373;0.405;0.507	T	0.72704	-0.4213	10	0.39692	T	0.17	.	14.1703	0.65506	0.0721:0.0:0.9279:0.0	.	1153;1153;1153	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	K	1153	ENSP00000244007:E1153K;ENSP00000362368:E1153K;ENSP00000362369:E1153K	ENSP00000244007:E1153K	E	+	1	0	PLCG1	39235768	1.000000	0.71417	0.937000	0.37676	0.918000	0.54935	3.772000	0.55325	1.330000	0.45394	0.455000	0.32223	GAA		0.507	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3		NM_182811		46	98	0	0	0	0.01441	0	46	98		
PTPRT	11122	broad.mit.edu	37	20	41385232	41385232	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:41385232G>C	ENST00000373187.1	-	6	728	c.729C>G	c.(727-729)gtC>gtG	p.V243V	PTPRT_ENST00000373190.1_Silent_p.V243V|PTPRT_ENST00000373184.1_Silent_p.V243V|PTPRT_ENST00000373198.4_Silent_p.V243V|PTPRT_ENST00000356100.2_Silent_p.V243V|PTPRT_ENST00000373193.3_Silent_p.V243V|PTPRT_ENST00000373201.1_Silent_p.V243V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	243	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTGTGGTTGACCACACGGG	0.582																																						uc002xkg.2		NaN																	0				skin(8)|ovary(7)|lung(5)	20						c.(727-729)GTC>GTG		protein tyrosine phosphatase, receptor type, T							45.0	47.0	46.0					20																	41385232		2065	4201	6266	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385232G>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.729C>G	20.37:g.41385232G>C						PTPRT_uc010ggj.2_Silent_p.V243V	p.V243V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	913	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	243			Extracellular (Potential).|Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.729C>G	CCDS42874.1																																																																																				0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1				7	21	0	0	0	0.004482	0	7	21		
PTPRT	11122	broad.mit.edu	37	20	41419965	41419965	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:41419965G>A	ENST00000373187.1	-	3	355	c.356C>T	c.(355-357)gCc>gTc	p.A119V	PTPRT_ENST00000373190.1_Missense_Mutation_p.A119V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A119V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A119V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A119V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A119V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A119V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	119	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACGTTCAAGGCCCCTGGGCT	0.597																																						uc002xkg.2		NaN																	0				skin(8)|ovary(7)|lung(5)	20						c.(355-357)GCC>GTC		protein tyrosine phosphatase, receptor type, T							67.0	71.0	70.0					20																	41419965		1961	4161	6122	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41419965G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.356C>T	20.37:g.41419965G>A	ENSP00000362283:p.Ala119Val					PTPRT_uc010ggj.2_Missense_Mutation_p.A119V	p.A119V	NM_007050	NP_008981	O14522	PTPRT_HUMAN			3	540	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	119			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.356C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227727	0.79576	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42;4.42	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.119407	0.64402	D	0.000020	T	0.03178	0.0093	L	0.28400	0.85	0.43613	D	0.99598	B;B	0.09022	0.001;0.002	B;B	0.12156	0.004;0.007	T	0.57242	-0.7845	10	0.38643	T	0.18	.	19.7626	0.96329	0.0:0.0:1.0:0.0	.	119;119	O14522-1;O14522	.;PTPRT_HUMAN	V	119	ENSP00000362286:A119V;ENSP00000362283:A119V;ENSP00000362289:A119V;ENSP00000348408:A119V;ENSP00000362294:A119V;ENSP00000362280:A119V;ENSP00000362297:A119V	ENSP00000348408:A119V	A	-	2	0	PTPRT	40853379	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.018000	0.88722	2.676000	0.91093	0.561000	0.74099	GCC		0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1				34	44	0	0	0	0.010771	0	34	44		
RIMS4	140730	broad.mit.edu	37	20	43385652	43385652	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:43385652C>G	ENST00000372851.3	-	5	544	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E161Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	160	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGCCATTCTCTAGCAGGTAG	0.562																																						uc002xms.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(478-480)GAG>CAG		regulating synaptic membrane exocytosis 4							239.0	229.0	232.0					20																	43385652		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43385652C>G		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.478G>C	20.37:g.43385652C>G	ENSP00000361942:p.Glu160Gln					RIMS4_uc010ggu.2_Missense_Mutation_p.E161Q	p.E160Q	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			5	478	-		Myeloproliferative disorder(115;0.0122)	160			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.478G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305596	0.95601	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79033	-1.23;-1.23	5.21	5.21	0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	L	0.43152	1.355	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.59221	0.854;0.854	D	0.84681	0.0717	10	0.72032	D	0.01	.	18.7616	0.91853	0.0:1.0:0.0:0.0	.	161;160	E1P613;Q9H426	.;RIMS4_HUMAN	Q	160;161	ENSP00000361942:E160Q;ENSP00000439287:E161Q	ENSP00000361942:E160Q	E	-	1	0	RIMS4	42819066	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.045000	0.71020	2.427000	0.82271	0.462000	0.41574	GAG		0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2		NM_182970		93	205	0	0	0	0.01441	0	93	205		
SYS1	90196	broad.mit.edu	37	20	43995738	43995738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:43995738C>T	ENST00000243918.5	+	4	745	c.454C>T	c.(454-456)Cct>Tct	p.P152S	SYS1_ENST00000414310.1_Missense_Mutation_p.P131S|SYS1_ENST00000372727.1_Missense_Mutation_p.P152S|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	152					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAACTCAGCCCCTAAATCCAA	0.577																																						uc002xnv.2		NaN																	0				skin(1)	1						c.(454-456)CCT>TCT		SYS1 Golgi-localized integral membrane protein							104.0	104.0	104.0					20																	43995738		2203	4300	6503	SO:0001583	missense	90196				protein transport	Golgi membrane|integral to membrane		g.chr20:43995738C>T	AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.454C>T	20.37:g.43995738C>T	ENSP00000243918:p.Pro152Ser					SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron	p.P152S	NM_033542	NP_291020	Q8N2H4	SYS1_HUMAN			4	712	+		Myeloproliferative disorder(115;0.0122)	152					C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Missense_Mutation	SNP	ENST00000243918.5	37	c.454C>T	CCDS13351.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110958	0.77210	.	.	ENSG00000204070	ENST00000372727;ENST00000414310;ENST00000243918	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.28694	0.88	0.80722	D	1	P	0.39480	0.675	B	0.28553	0.091	T	0.24012	-1.0172	9	0.33141	T	0.24	-0.3691	19.8676	0.96824	0.0:1.0:0.0:0.0	.	152	Q8N2H4	SYS1_HUMAN	S	152;131;152	.	ENSP00000243918:P152S	P	+	1	0	SYS1	43429152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.262000	0.78410	2.941000	0.99782	0.655000	0.94253	CCT		0.577	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079453.2		NM_033542		33	77	0	0	0	0.005524	0	33	77		
UBE2C	11065	broad.mit.edu	37	20	44442074	44442074	+	Splice_Site	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:44442074A>G	ENST00000356455.4	+	2	221		c.e2-1		UBE2C_ENST00000405520.1_5'UTR|UBE2C_ENST00000335046.3_Splice_Site|UBE2C_ENST00000352551.5_Splice_Site|UBE2C_ENST00000372568.4_Splice_Site|UBE2C_ENST00000243893.6_Splice_Site	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C						activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CTCTTTTTTCAGGCTACAGCA	0.542																																						uc002xpm.2		NaN																	0					0						c.e2-2		ubiquitin-conjugating enzyme E2C isoform 1							171.0	182.0	178.0					20																	44442074		2203	4300	6503	SO:0001630	splice_region_variant	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44442074A>G	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.102-1A>G	20.37:g.44442074A>G						UBE2C_uc002xpl.2_Splice_Site_p.R34_splice|UBE2C_uc002xpn.2_5'UTR|UBE2C_uc002xpo.2_Splice_Site_p.R34_splice|UBE2C_uc002xpp.2_Splice_Site_p.R34_splice|UBE2C_uc002xpq.2_Splice_Site	p.R34_splice	NM_007019	NP_008950	O00762	UBE2C_HUMAN			2	182	+		Myeloproliferative disorder(115;0.0122)						A6NP33|E1P5N7|G3XAB7	Splice_Site	SNP	ENST00000356455.4	37	c.102_splice	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028927	0.75504	.	.	ENSG00000175063	ENST00000356455;ENST00000335046;ENST00000243893;ENST00000352551	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.248	0.54581	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2C	43875481	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	7.363000	0.79516	2.005000	0.58758	0.459000	0.35465	.		0.542	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2		NM_007019	Intron	32	125	0	0	0	0.01441	0	32	125		
SLC12A5	57468	broad.mit.edu	37	20	44684813	44684813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:44684813C>G	ENST00000454036.2	+	22	2930	c.2881C>G	c.(2881-2883)Cga>Gga	p.R961G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R938G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	961					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGATGAGTCACGAGGCTCAAT	0.562																																						uc010zxl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2881-2883)CGA>GGA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						77.0	63.0	68.0					20																	44684813		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44684813C>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2881C>G	20.37:g.44684813C>G	ENSP00000387694:p.Arg961Gly					SLC12A5_uc002xrb.2_Missense_Mutation_p.R938G	p.R961G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			22	2957	+		Myeloproliferative disorder(115;0.0122)	961			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2881C>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843148	0.32606	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.46063	0.88;0.88	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.49406	0.1555	M	0.70275	2.135	0.80722	D	1	B;P	0.45126	0.314;0.851	B;P	0.46479	0.09;0.518	T	0.44620	-0.9316	10	0.19147	T	0.46	.	17.033	0.86466	0.0:1.0:0.0:0.0	.	961;938	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	G	961;938	ENSP00000387694:R961G;ENSP00000243964:R938G	ENSP00000243964:R938G	R	+	1	2	SLC12A5	44118220	1.000000	0.71417	0.999000	0.59377	0.174000	0.22865	7.320000	0.79064	2.503000	0.84419	0.561000	0.74099	CGA		0.562	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1				13	31	0	0	0	0.006122	0	13	31		
DPM1	8813	broad.mit.edu	37	20	49576335	49576335	+	5'Flank	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:49576335C>A	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Nonsense_Mutation_p.S319*|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGTGGCTCCTCAGCCACTGAT	0.587																																						uc002xvy.1		NaN																	0				skin(2)|ovary(1)	3						c.(955-957)TCA>TAA		molybdenum cofactor synthesis 3							79.0	81.0	81.0					20																	49576335		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576335C>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576335C>A	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.S319*	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	973	+			319					O15157|Q6IB78|Q96HK0	Nonsense_Mutation	SNP	ENST00000371588.5	37	c.956C>A	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101986	0.94245	.	.	ENSG00000124217	ENST00000244051	.	.	.	4.89	4.89	0.63831	.	0.196869	0.44483	D	0.000450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.735	11.6932	0.51527	0.0:0.9191:0.0:0.0809	.	.	.	.	X	319	.	.	S	+	2	0	MOCS3	49009742	1.000000	0.71417	0.229000	0.23960	0.885000	0.51271	7.188000	0.77739	2.539000	0.85634	0.561000	0.74099	TCA		0.587	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859		19	63	1	0	2.89027e-11	0.014323	3.09218e-11	19	63		
GATA5	140628	broad.mit.edu	37	20	61041539	61041539	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:61041539C>T	ENST00000252997.2	-	4	829	c.768G>A	c.(766-768)cgG>cgA	p.R256R		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	256					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCTCCGAGTTCCGCCGCCACA	0.706																																						uc002ycx.1		NaN																	0					0						c.(766-768)CGG>CGA		GATA binding protein 5							24.0	24.0	24.0					20																	61041539		2188	4286	6474	SO:0001819	synonymous_variant	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61041539C>T	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.768G>A	20.37:g.61041539C>T							p.R256R	NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		4	830	-	Breast(26;2.05e-08)		256			GATA-type 2.		D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	c.768G>A	CCDS13499.1																																																																																				0.706	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2		NM_080473		7	10	0	0	0	0.008291	0	7	10		
SLCO4A1	28231	broad.mit.edu	37	20	61299480	61299480	+	Missense_Mutation	SNP	C	C	A	rs576768070	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr20:61299480C>A	ENST00000370507.1	+	8	1851	c.1755C>A	c.(1753-1755)ttC>ttA	p.F585L	RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.F585L|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	585					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTTCATATTCGTTGTAATTT	0.488											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1		NaN																	0				ovary(1)	1						c.(1753-1755)TTC>TTA		solute carrier organic anion transporter family							156.0	152.0	153.0					20																	61299480		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299480C>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1755C>A	20.37:g.61299480C>A	ENSP00000359538:p.Phe585Leu		OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron	p.F585L	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		9	1960	+	Breast(26;3.65e-08)		585			Helical; Name=10; (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1755C>A	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	40	8.332426	0.98764	.	.	ENSG00000101187	ENST00000217159;ENST00000370507;ENST00000342674	T;T	0.59083	0.29;0.29	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.468148	0.23551	N	0.046962	T	0.60919	0.2306	M	0.86097	2.795	0.53688	D	0.999973	B	0.22909	0.077	B	0.29267	0.1	T	0.61312	-0.7088	10	0.37606	T	0.19	.	9.0825	0.36561	0.0:0.8348:0.0:0.1652	.	585	Q96BD0	SO4A1_HUMAN	L	585;585;437	ENSP00000217159:F585L;ENSP00000359538:F585L	ENSP00000217159:F585L	F	+	3	2	SLCO4A1	60769925	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.980000	0.40618	2.270000	0.75569	0.491000	0.48974	TTC		0.488	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2		NM_016354		23	56	1	0	3.6726e-16	0.003954	3.94492e-16	23	56		
TPTE	7179	broad.mit.edu	37	21	10906963	10906963	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:10906963A>T	ENST00000361285.4	-	24	1927	c.1598T>A	c.(1597-1599)gTg>gAg	p.V533E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.V495E|TPTE_ENST00000298232.7_Missense_Mutation_p.V515E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	533	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTATCTCCACGGCAAAATC	0.353																																						uc002yip.1		NaN																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1597-1599)GTG>GAG		transmembrane phosphatase with tensin homology							136.0	121.0	126.0					21																	10906963		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906963A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1598T>A	21.37:g.10906963A>T	ENSP00000355208:p.Val533Glu					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V515E|TPTE_uc002yir.1_Missense_Mutation_p.V495E|TPTE_uc010gkv.1_Missense_Mutation_p.V395E	p.V533E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	24	1966	-			533			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1598T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.37	2.216335	0.39201	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.91521	-2.86;-2.86;-2.86	2.39	1.22	0.21188	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.071283	0.56097	U	0.000036	D	0.93986	0.8074	M	0.86178	2.8	0.40856	D	0.983793	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.91861	0.5499	10	0.87932	D	0	-9.3058	5.7391	0.18083	0.8519:0.0:0.1481:0.0	.	495;515;533	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	515;533;495	ENSP00000298232:V515E;ENSP00000355208:V533E;ENSP00000344441:V495E	ENSP00000298232:V515E	V	-	2	0	TPTE	9928834	0.992000	0.36948	0.013000	0.15412	0.013000	0.08279	5.171000	0.64996	0.345000	0.23873	0.155000	0.16302	GTG		0.353	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1				11	85	0	0	0	0.001855	0	11	85		
CXADR	1525	broad.mit.edu	37	21	18933792	18933792	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:18933792C>T	ENST00000284878.7	+	6	1579	c.831C>T	c.(829-831)atC>atT	p.I277I	CXADR_ENST00000400169.1_Silent_p.I277I|CXADR_ENST00000306618.10_Silent_p.I236I|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	277					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATCACGATATCAGGTAATTAA	0.363																																						uc002yki.2		NaN																	0				ovary(1)	1						c.(829-831)ATC>ATT		coxsackie virus and adenovirus receptor							72.0	71.0	71.0					21																	18933792		2203	4300	6503	SO:0001819	synonymous_variant	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18933792C>T	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.831C>T	21.37:g.18933792C>T						CXADR_uc002ykh.1_Intron|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Silent_p.I250I	p.I277I	NM_001338	NP_001329	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	6	949	+			277			Cytoplasmic (Potential).		B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	c.831C>T	CCDS33519.1																																																																																				0.363	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1				16	25	0	0	0	0.00278	0	16	25		
TIAM1	7074	broad.mit.edu	37	21	32598123	32598123	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:32598123C>T	ENST00000286827.3	-	8	2199	c.1728G>A	c.(1726-1728)atG>atA	p.M576I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.M576I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	576					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTTTCATCCATGTCAATCT	0.448																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1726-1728)ATG>ATA		T-cell lymphoma invasion and metastasis 1							177.0	158.0	164.0					21																	32598123		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32598123C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1728G>A	21.37:g.32598123C>T	ENSP00000286827:p.Met576Ile					TIAM1_uc011adk.1_Missense_Mutation_p.M576I|TIAM1_uc011adl.1_Missense_Mutation_p.M576I|TIAM1_uc002yox.1_Missense_Mutation_p.M184I	p.M576I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			8	2200	-			576					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1728G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214259	0.79352	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.27104	1.69;1.69	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.51422	1.61	0.58432	D	0.999999	D;D;P;D	0.59357	0.964;0.971;0.94;0.985	D;P;P;D	0.66084	0.927;0.801;0.848;0.941	T	0.43814	-0.9368	10	0.66056	D	0.02	.	17.4195	0.87511	0.0:1.0:0.0:0.0	.	576;576;417;576	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	I	576;417;576	ENSP00000286827:M576I;ENSP00000441570:M576I	ENSP00000286827:M576I	M	-	3	0	TIAM1	31519994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.330000	0.79161	0.655000	0.94253	ATG		0.448	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		22	45	0	0	0	0.003954	0	22	45		
SCAF4	57466	broad.mit.edu	37	21	33069064	33069064	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:33069064C>T	ENST00000286835.7	-	8	1160		c.e8-1		SCAF4_ENST00000399804.1_Splice_Site|SCAF4_ENST00000434667.3_Splice_Site	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4							nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAAGCAACTTCTGGAATAATT	0.388																																						uc002ypd.2		NaN																	0					0						c.e8-1		splicing factor, arginine/serine-rich 15 isoform							91.0	97.0	95.0					21																	33069064		2203	4300	6503	SO:0001630	splice_region_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33069064C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.778-1G>A	21.37:g.33069064C>T						SFRS15_uc002ype.2_Splice_Site_p.K260_splice|SFRS15_uc010glu.2_Splice_Site_p.K245_splice|SFRS15_uc002ypf.1_Intron	p.K260_splice	NM_020706	NP_065757	O95104	SFR15_HUMAN			8	1204	-								C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Splice_Site	SNP	ENST00000286835.7	37	c.778_splice	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690175	0.68271	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.923	0.63945	0.2647:0.7353:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAF4	31990935	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.411000	0.59781	2.941000	0.99782	0.655000	0.94253	.		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889	Intron	23	50	0	0	0	0.008361	0	23	50		
IL10RB	3588	broad.mit.edu	37	21	34640812	34640812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:34640812C>T	ENST00000290200.2	+	2	271	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Silent_p.L182L	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCACAGCTCAGTACCTAAG	0.532																																					Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NaN																	0					0						c.(163-165)CAG>TAG		interleukin 10 receptor, beta precursor							92.0	83.0	86.0					21																	34640812		2203	4300	6503	SO:0001587	stop_gained	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34640812C>T	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.163C>T	21.37:g.34640812C>T	ENSP00000290200:p.Gln55*					IL10RB_uc002yrh.1_Nonsense_Mutation_p.Q125*|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Nonsense_Mutation_p.Q57*	p.Q55*	NM_000628	NP_000619	Q08334	I10R2_HUMAN			2	262	+			55			Extracellular (Potential).		Q9BUU4	Nonsense_Mutation	SNP	ENST00000290200.2	37	c.163C>T	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297577	0.81025	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	.	.	.	5.35	4.46	0.54185	.	0.074510	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.5709	10.1823	0.42975	0.0:0.907:0.0:0.093	.	.	.	.	X	55	.	ENSP00000290200:Q55X	Q	+	1	0	IL10RB	33562682	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	0.714000	0.25808	1.249000	0.43950	0.655000	0.94253	CAG		0.532	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3				20	60	0	0	0	0.014323	0	20	60		
IFNAR1	3454	broad.mit.edu	37	21	34717650	34717650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:34717650C>T	ENST00000270139.3	+	6	924	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	IFNAR1_ENST00000416947.2_Nonsense_Mutation_p.Q189*|IFNAR1_ENST00000442357.2_Nonsense_Mutation_p.Q258*	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	258	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CATGACCTTTCAAGTTCAGTG	0.378																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	uc002yrn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(772-774)CAA>TAA		interferon-alpha receptor 1 precursor	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						120.0	109.0	113.0					21																	34717650		2203	4300	6503	SO:0001587	stop_gained	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34717650C>T		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.772C>T	21.37:g.34717650C>T	ENSP00000270139:p.Gln258*					IFNAR1_uc011adv.1_Nonsense_Mutation_p.Q189*	p.Q258*	NM_000629	NP_000620	P17181	INAR1_HUMAN			6	919	+			258			Fibronectin type-III 2.|Extracellular (Potential).		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Nonsense_Mutation	SNP	ENST00000270139.3	37	c.772C>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710828	0.68730	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	.	.	.	5.14	1.98	0.26296	.	14.832200	0.00424	N	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-3.5169	8.4478	0.32852	0.1647:0.5358:0.2996:0.0	.	.	.	.	X	189;258;258	.	ENSP00000270139:Q258X	Q	+	1	0	IFNAR1	33639520	0.036000	0.19791	0.149000	0.22428	0.939000	0.58152	0.130000	0.15850	0.592000	0.29728	0.448000	0.29417	CAA		0.378	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4				9	30	0	0	0	0.001855	0	9	30		
ITSN1	6453	broad.mit.edu	37	21	35166747	35166747	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:35166747G>C	ENST00000381318.3	+	17	2215	c.1927G>C	c.(1927-1929)Gaa>Caa	p.E643Q	ITSN1_ENST00000437442.2_Missense_Mutation_p.E643Q|ITSN1_ENST00000399326.3_Missense_Mutation_p.E643Q|ITSN1_ENST00000399338.4_Missense_Mutation_p.E643Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E643Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E643Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.E643Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E643Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E606Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E643Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.E643Q|ITSN1_ENST00000379960.5_Missense_Mutation_p.E643Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	643	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CATAGAATTAGAAAAACAAAA	0.383																																						uc002yta.1		NaN																	0				ovary(3)|skin(1)	4						c.(1927-1929)GAA>CAA		intersectin 1 isoform ITSN-l							75.0	80.0	78.0					21																	35166747		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35166747G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1927G>C	21.37:g.35166747G>C	ENSP00000370719:p.Glu643Gln					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E527Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E643Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E606Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E606Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E577Q	p.E643Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			17	2195	+			643			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1927G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032098	0.35893	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;2.55;2.55;2.55;1.57;1.57;2.55;1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	.	0.166972	0.52532	D	0.000071	T	0.13713	0.0332	N	0.00926	-1.1	0.40692	D	0.982409	P;B;B;B;B;B;B;B;B;B	0.36144	0.539;0.397;0.005;0.073;0.234;0.134;0.245;0.245;0.34;0.226	B;B;B;B;B;B;B;B;B;B	0.36959	0.135;0.085;0.006;0.032;0.099;0.03;0.032;0.047;0.237;0.057	T	0.32693	-0.9897	10	0.15499	T	0.54	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	606;606;606;643;643;643;643;643;643;606	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Q	606;643;643;643;643;643;643;643;643;643;643;643;643;643	ENSP00000382290:E606Q;ENSP00000370719:E643Q;ENSP00000370691:E643Q;ENSP00000370685:E643Q;ENSP00000382301:E643Q;ENSP00000382289:E643Q;ENSP00000382292:E643Q;ENSP00000382286:E643Q;ENSP00000382275:E643Q;ENSP00000387377:E643Q;ENSP00000382265:E643Q;ENSP00000369294:E643Q	ENSP00000369294:E643Q	E	+	1	0	ITSN1	34088617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.197000	0.58413	2.713000	0.92767	0.655000	0.94253	GAA		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		11	23	0	0	0	0.00245	0	11	23		
ERG	2078	broad.mit.edu	37	21	39817505	39817505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:39817505C>G	ENST00000417133.2	-	4	264	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ERG_ENST00000453032.2_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.E27Q|ERG_ENST00000429727.2_Missense_Mutation_p.E20Q|ERG_ENST00000398910.1_Missense_Mutation_p.E27Q|ERG_ENST00000288319.7_Missense_Mutation_p.E20Q|ERG_ENST00000398907.1_Missense_Mutation_p.E20Q|ERG_ENST00000398905.1_Missense_Mutation_p.E20Q|ERG_ENST00000398897.1_Intron|ERG_ENST00000442448.1_Missense_Mutation_p.E27Q|ERG_ENST00000398911.1_Missense_Mutation_p.E27Q	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TAGGCACACTCAAACAACGAC	0.502			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NaN		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(79-81)GAG>CAG		ets-related isoform 4							115.0	90.0	98.0					21																	39817505		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39817505C>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.79G>C	21.37:g.39817505C>G	ENSP00000414150:p.Glu27Gln					ERG_uc002yxa.2_Missense_Mutation_p.E20Q|ERG_uc011aek.1_Intron|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Missense_Mutation_p.E27Q|ERG_uc011ael.1_Missense_Mutation_p.E27Q|ERG_uc002yxb.2_Missense_Mutation_p.E27Q|ERG_uc011aem.1_Missense_Mutation_p.E20Q|ERG_uc002yxc.3_Missense_Mutation_p.E27Q	p.E27Q	NM_001136155	NP_001129627	P11308	ERG_HUMAN			4	374	-		Prostate(19;3.6e-06)	27					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.79G>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413262	0.96072	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.19938	2.12;2.14;2.11;2.14;2.14;2.16;2.14;2.14	5.77	5.77	0.91146	.	0.052864	0.64402	D	0.000001	T	0.45637	0.1352	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.999;0.987;0.998	D;D;D;P;D	0.85130	0.997;0.917;0.974;0.907;0.954	T	0.24870	-1.0148	10	0.66056	D	0.02	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	20;27;27;27;20	B4E3C5;P11308;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	Q	20;20;20;27;27;27;27;27;20	ENSP00000381877:E20Q;ENSP00000381879:E20Q;ENSP00000288319:E20Q;ENSP00000381882:E27Q;ENSP00000414150:E27Q;ENSP00000381881:E27Q;ENSP00000394694:E27Q;ENSP00000381891:E27Q	ENSP00000288319:E20Q	E	-	1	0	ERG	38739375	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.715000	0.92844	0.655000	0.94253	GAG		0.502	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2		NM_182918		18	40	0	0	0	0.00333	0	18	40		
IGSF5	150084	broad.mit.edu	37	21	41142978	41142978	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:41142978C>G	ENST00000380588.4	+	4	657	c.554C>G	c.(553-555)tCa>tGa	p.S185*	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	185	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S185*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GTCAGCCATTCAAGCTATTAT	0.537																																						uc002yyo.2		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(553-555)TCA>TGA		immunoglobulin superfamily 5 like							74.0	71.0	72.0					21																	41142978		2203	4300	6503	SO:0001587	stop_gained	150084					integral to membrane|tight junction		g.chr21:41142978C>G		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.554C>G	21.37:g.41142978C>G	ENSP00000369962:p.Ser185*						p.S185*	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			4	657	+		Prostate(19;5.35e-06)	185			Ig-like V-type 2.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000380588.4	37	c.554C>G	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358849	0.82353	.	.	ENSG00000183067	ENST00000380588	.	.	.	5.11	2.23	0.28157	.	0.711508	0.14029	N	0.346264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.4225	8.8258	0.35054	0.0:0.6383:0.2842:0.0775	.	.	.	.	X	185	.	ENSP00000369962:S185X	S	+	2	0	IGSF5	40064848	0.016000	0.18221	0.001000	0.08648	0.078000	0.17371	0.839000	0.27586	0.358000	0.24211	0.650000	0.86243	TCA		0.537	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1				13	29	0	0	0	0.004007	0	13	29		
TMPRSS3	64699	broad.mit.edu	37	21	43800263	43800263	+	Silent	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:43800263C>A	ENST00000291532.3	-	10	1966	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V	TMPRSS3_ENST00000380399.1_Silent_p.V421V|TMPRSS3_ENST00000433957.2_Silent_p.V337V|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Silent_p.V335V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	337	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACGTCCAGCACACTTTTCCAT	0.557																																						uc002zbb.2		NaN																	0				ovary(2)|breast(1)	3						c.(1009-1011)GTG>GTT		transmembrane protease, serine 3 isoform 1							70.0	61.0	64.0					21																	43800263		2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43800263C>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1011G>T	21.37:g.43800263C>A						TMPRSS3_uc002zay.2_Silent_p.V95V|TMPRSS3_uc002zaz.2_Silent_p.V210V|TMPRSS3_uc002zba.2_Silent_p.V210V|TMPRSS3_uc002zbc.2_Silent_p.V337V	p.V337V	NM_024022	NP_076927	P57727	TMPS3_HUMAN			10	1212	-			337			Peptidase S1.|Extracellular (Potential).		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.1011G>T	CCDS13686.1																																																																																				0.557	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1				3	46	1	0	1.024e-07	0.000602	1.0741e-07	3	46		
PFKL	5211	broad.mit.edu	37	21	45743762	45743762	+	Silent	SNP	C	C	T	rs373085878		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:45743762C>T	ENST00000349048.4	+	16	1666	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	PFKL_ENST00000403390.1_Silent_p.F584F	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	537	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCACCGACTTCAGCCTGGGCT	0.652																																						uc002zel.2		NaN																	0					0						c.(1609-1611)TTC>TTT		liver phosphofructokinase		C		0,4402		0,0,2201	99.0	71.0	81.0		1611	3.8	1.0	21		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PFKL	NM_002626.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		537/781	45743762	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45743762C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1611C>T	21.37:g.45743762C>T						PFKL_uc002zek.2_Silent_p.F584F|PFKL_uc002zem.2_Silent_p.F124F|PFKL_uc002zen.2_Silent_p.F124F	p.F537F	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	16	1670	+			537					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.1611C>T	CCDS33582.1																																																																																				0.652	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1				13	28	0	0	0	0.008871	0	13	28		
TSPEAR	54084	broad.mit.edu	37	21	45948467	45948467	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr21:45948467C>G	ENST00000323084.4	-	6	856		c.e6-1		TSPEAR_ENST00000397916.1_Splice_Site	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats						sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATGTTGGTTTCTGAGGGGAAG	0.597																																						uc002zfe.1		NaN																	0					0						c.e6-1		chromosome 21 open reading frame 29 precursor							87.0	71.0	76.0					21																	45948467		2203	4300	6503	SO:0001630	splice_region_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948467C>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.791-1G>C	21.37:g.45948467C>G						C21orf29_uc010gpv.1_Splice_Site_p.E196_splice	p.E264_splice	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			6	857	-									Splice_Site	SNP	ENST00000323084.4	37	c.791_splice	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107129	0.37145	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6354	0.91376	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSPEAR	44772895	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	5.145000	0.64839	2.397000	0.81536	0.561000	0.74099	.		0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1		NM_144991	Intron	15	15	0	0	0	0.006122	0	15	15		
VPREB1	7441	broad.mit.edu	37	22	22599468	22599468	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:22599468A>T	ENST00000403807.3	+	2	296	c.157A>T	c.(157-159)Agc>Tgc	p.S53C	VPREB1_ENST00000302273.2_Missense_Mutation_p.S52C			P12018	VPREB_HUMAN	pre-B lymphocyte 1	53	Complementarity-determining-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGGTGTGTACAGCGTCTACTG	0.627																																						uc002zvx.1		NaN																	0					0						c.(157-159)AGC>TGC		immunoglobulin iota chain precursor							100.0	102.0	101.0					22																	22599468		2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599468A>T	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.157A>T	22.37:g.22599468A>T	ENSP00000385361:p.Ser53Cys					LOC96610_uc011aim.1_Intron	p.S53C	NM_007128	NP_009059	P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	183	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	53			Ig-like V-type.|Complementarity-determining-1.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.157A>T	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	a	11.69	1.712887	0.30413	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.44482	0.92;0.92	3.62	0.169	0.15017	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.798902	0.11279	N	0.580575	T	0.52386	0.1731	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.36986	-0.9725	10	0.40728	T	0.16	.	3.2712	0.06883	0.6149:0.0:0.2109:0.1743	.	53	P12018	VPREB_HUMAN	C	53;52	ENSP00000385361:S53C;ENSP00000304590:S52C	ENSP00000304590:S52C	S	+	1	0	VPREB1	20929468	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.175000	0.16762	-0.115000	0.11915	-1.202000	0.01658	AGC		0.627	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1				6	430	0	0	0	0.004482	0	6	430		
GSTT1	2952	broad.mit.edu	37	22	24376503	24376503	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:24376503G>A	ENST00000248935.5	-	5	695	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	KB-226F1.1_ENST00000608619.1_RNA|GSTT1_ENST00000439996.2_Silent_p.L97L	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		215	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	TTGGCCTTCAGAATGACCTCA	0.622									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													uc002zze.3		NaN																	0				ovary(1)	1						c.(643-645)CTG>TTG		glutathione S-transferase theta 1	Glutathione(DB00143)						41.0	46.0	44.0					22																	24376503		1681	3589	5270	SO:0001819	synonymous_variant	2952	Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24376503G>A																												ENST00000248935.5:c.643C>T	22.37:g.24376503G>A						GSTT1_uc002zzf.3_RNA|GSTT1_uc010gug.2_RNA|GSTT1_uc011ajl.1_Silent_p.L97L|GSTT1_uc010guh.2_RNA	p.L215L	NM_000853	NP_000844	P30711	GSTT1_HUMAN			5	696	-			215			GST C-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Silent	SNP	ENST00000248935.5	37	c.643C>T	CCDS13822.1																																																																																				0.622	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2				28	113	0	0	0	0.013726	0	28	113		
PIWIL3	440822	broad.mit.edu	37	22	25150040	25150040	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:25150040C>G	ENST00000332271.5	-	8	1334	c.918G>C	c.(916-918)caG>caC	p.Q306H	PIWIL3_ENST00000527701.1_Missense_Mutation_p.Q197H|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Q197H|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	306	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTTTCCTGTCTGGGCCTGGG	0.388																																						uc003abd.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(916-918)CAG>CAC		piwi-like 3							128.0	129.0	129.0					22																	25150040		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150040C>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.918G>C	22.37:g.25150040C>G	ENSP00000330031:p.Gln306His					PIWIL3_uc011ajx.1_Missense_Mutation_p.Q197H|PIWIL3_uc011ajy.1_Missense_Mutation_p.Q197H|PIWIL3_uc010gut.1_Missense_Mutation_p.Q306H	p.Q306H	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			8	1335	-			306			PAZ.			Missense_Mutation	SNP	ENST00000332271.5	37	c.918G>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253088	0.10185	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.14516	2.5;2.5;2.5	1.95	0.89	0.19218	Argonaute/Dicer protein, PAZ (3);	0.510841	0.19011	U	0.125070	T	0.14960	0.0361	N	0.24115	0.695	0.09310	N	1	D;B;B	0.53885	0.963;0.035;0.08	P;B;B	0.60236	0.871;0.011;0.011	T	0.08186	-1.0734	10	0.45353	T	0.12	2.1573	4.8044	0.13312	0.0:0.1924:0.0:0.8076	.	197;306;306	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	H	306;197;197	ENSP00000330031:Q306H;ENSP00000431843:Q197H;ENSP00000435718:Q197H	ENSP00000330031:Q306H	Q	-	3	2	PIWIL3	23480040	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.579000	0.05834	0.235000	0.21160	0.313000	0.20887	CAG		0.388	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2		NM_001008496		52	296	0	0	0	0.01441	0	52	296		
MN1	4330	broad.mit.edu	37	22	28195117	28195117	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:28195117G>A	ENST00000302326.4	-	1	2369	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	472					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCGTTCCACGAAGCGCAGCG	0.662			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NaN		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(1414-1416)TCG>TTG		meningioma  1							17.0	21.0	19.0					22																	28195117		2085	4206	6291	SO:0001583	missense	4330						binding	g.chr22:28195117G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1415C>T	22.37:g.28195117G>A	ENSP00000304956:p.Ser472Leu						p.S472L	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	2370	-			472					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1415C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137929	0.77775	.	.	ENSG00000169184	ENST00000302326	T	0.49432	0.78	4.92	4.92	0.64577	.	0.127328	0.35320	N	0.003292	T	0.40372	0.1114	N	0.19112	0.55	0.38805	D	0.955291	D	0.56746	0.977	P	0.45913	0.497	T	0.49194	-0.8965	10	0.59425	D	0.04	-18.7724	16.7296	0.85431	0.0:0.0:1.0:0.0	.	472	Q10571	MN1_HUMAN	L	472	ENSP00000304956:S472L	ENSP00000304956:S472L	S	-	2	0	MN1	26525117	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	4.584000	0.60971	2.281000	0.76405	0.313000	0.20887	TCG		0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1		NM_002430		13	6	0	0	0	0.003163	0	13	6		
MOV10L1	54456	broad.mit.edu	37	22	50530602	50530602	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:50530602G>C	ENST00000262794.5	+	2	353	c.270G>C	c.(268-270)ctG>ctC	p.L90L	MOV10L1_ENST00000395858.3_Silent_p.L90L|MOV10L1_ENST00000545383.1_Silent_p.L90L|MOV10L1_ENST00000540615.1_Silent_p.L70L|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	90					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCAATGGACTGAAAGCAATCA	0.418																																						uc003bjj.2		NaN																	0				ovary(2)|skin(1)	3						c.(268-270)CTG>CTC		MOV10-like 1 isoform 1							154.0	144.0	148.0					22																	50530602		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50530602G>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.270G>C	22.37:g.50530602G>C						MOV10L1_uc003bjk.3_Silent_p.L90L|MOV10L1_uc011arp.1_Silent_p.L70L|MOV10L1_uc010han.2_Silent_p.L70L	p.L90L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	2	353	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	90					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.270G>C	CCDS14084.1																																																																																				0.418	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995		29	13	0	0	0	0.004878	0	29	13		
PLXNB2	23654	broad.mit.edu	37	22	50726223	50726223	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr22:50726223C>A	ENST00000449103.1	-	7	1622		c.e7-1		PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Splice_Site			O15031	PLXB2_HUMAN	plexin B2						brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGTGCATCTGCAGGCGCA	0.706																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e7-1		plexin B2 precursor							6.0	8.0	7.0					22																	50726223		1804	3840	5644	SO:0001630	splice_region_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50726223C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1482-1G>T	22.37:g.50726223C>A							p.R494_splice	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	1588	-		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)						A6QRH0|Q7KZU3|Q9BSU7	Splice_Site	SNP	ENST00000449103.1	37	c.1482_splice	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702816	0.30232	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4525	0.83996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXNB2	49068350	1.000000	0.71417	0.852000	0.33557	0.014000	0.08584	6.756000	0.74919	2.537000	0.85549	0.561000	0.74099	.		0.706	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401	Intron	8	6	1	0	3.86212e-05	0.008291	3.9657e-05	8	6		
JAGN1	84522	broad.mit.edu	37	3	9935060	9935060	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9935060G>A	ENST00000307768.4	+	2	720	c.551G>A	c.(550-552)tGa>tAa	p.*184*		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AAGCATAAATGAAGCCTCTTT	0.488																																						uc003btt.3		NaN																	0				ovary(1)	1						c.(550-552)TGA>TAA		jagunal homolog 1							77.0	59.0	65.0					3																	9935060		2203	4300	6503	SO:0001819	synonymous_variant	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9935060G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.551G>A	3.37:g.9935060G>A						CIDEC_uc003bto.2_Intron	p.*184*	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN			2	687	+	Medulloblastoma(99;0.227)		184						Silent	SNP	ENST00000307768.4	37	c.551G>A	CCDS2588.1																																																																																				0.488	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1		NM_032492		4	10	0	0	0	0.009096	0	4	10		
IL17RE	132014	broad.mit.edu	37	3	9956431	9956431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9956431C>G	ENST00000383814.3	+	15	1522	c.1417C>G	c.(1417-1419)Ctg>Gtg	p.L473V	IL17RC_ENST00000455057.1_5'Flank|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000413608.1_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RE_ENST00000421412.1_Missense_Mutation_p.L506V|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000454190.2_Missense_Mutation_p.S497C|IL17RE_ENST00000295980.3_Missense_Mutation_p.L473V	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	473					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GGGTGTTGTTCTGGCCCTCAC	0.617																																						uc003btu.2		NaN																	0				central_nervous_system(1)	1						c.(1417-1419)CTG>GTG		interleukin 17 receptor E isoform 1							92.0	96.0	95.0					3																	9956431		2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956431C>G	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1417C>G	3.37:g.9956431C>G	ENSP00000373325:p.Leu473Val					CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Missense_Mutation_p.L473V|IL17RE_uc003btx.2_Missense_Mutation_p.L357V|IL17RE_uc010hcq.2_Missense_Mutation_p.S497C|IL17RE_uc003bty.2_RNA	p.L473V	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	16	1534	+			473			Helical; (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.1417C>G	CCDS2589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997695|2.997695	0.54147|0.54147	.|.	.|.	ENSG00000163701|ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000441648|ENST00000454190	T;T;T|T	0.31510|0.27720	1.49;1.5;1.5|1.65	4.6|4.6	-1.71|-1.71	0.08133|0.08133	.|.	0.409334|.	0.17068|.	N|.	0.188291|.	T|T	0.18215|0.18215	0.0437|0.0437	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D|B	0.52996|0.11235	0.957|0.004	P|B	0.44696|0.10450	0.458|0.005	T|T	0.31308|0.31308	-0.9948|-0.9948	10|9	0.62326|0.87932	D|D	0.03|0	-3.7389|-3.7389	0.9649|0.9649	0.01403|0.01403	0.1557:0.3221:0.1521:0.3702|0.1557:0.3221:0.1521:0.3702	.|.	473|497	Q8NFR9|Q8NFR9-3	I17RE_HUMAN|.	V|C	506;473;473;356|497	ENSP00000404916:L506V;ENSP00000295980:L473V;ENSP00000373325:L473V|ENSP00000388086:S497C	ENSP00000295980:L473V|ENSP00000388086:S497C	L|S	+|+	1|2	2|0	IL17RE|IL17RE	9931431|9931431	0.153000|0.153000	0.22777|0.22777	0.000000|0.000000	0.03702|0.03702	0.306000|0.306000	0.27790|0.27790	0.169000|0.169000	0.16641|0.16641	-0.629000|-0.629000	0.05575|0.05575	0.491000|0.491000	0.48974|0.48974	CTG|TCT		0.617	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1		NM_153480		49	63	0	0	0	0.01441	0	49	63		
CAND2	23066	broad.mit.edu	37	3	12859276	12859276	+	Missense_Mutation	SNP	G	G	A	rs201393756		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:12859276G>A	ENST00000456430.2	+	10	2886	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	CAND2_ENST00000295989.5_Missense_Mutation_p.E856K	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	949					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGAGGGTGCTGAGGAGGGCAC	0.672																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NaN																	0				skin(3)|pancreas(1)	4						c.(2845-2847)GAG>AAG		TBP-interacting protein isoform 1							62.0	74.0	71.0					3																	12859276		2029	4178	6207	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12859276G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2845G>A	3.37:g.12859276G>A	ENSP00000387641:p.Glu949Lys					CAND2_uc003bxj.2_Missense_Mutation_p.E856K	p.E949K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			10	2894	+			949			HEAT 20.		B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2845G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228454	0.79576	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.36520	1.25;1.25	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.064020	0.64402	D	0.000014	T	0.68705	0.3030	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.79108	0.992;0.979	T	0.77346	-0.2622	10	0.54805	T	0.06	-8.6607	15.364	0.74507	0.0:0.0:1.0:0.0	.	949;856	O75155;O75155-2	CAND2_HUMAN;.	K	856;949	ENSP00000295989:E856K;ENSP00000387641:E949K	ENSP00000295989:E856K	E	+	1	0	CAND2	12834276	1.000000	0.71417	0.962000	0.40283	0.561000	0.35649	9.647000	0.98478	2.289000	0.77006	0.561000	0.74099	GAG		0.672	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4		XM_371617		91	57	0	0	0	0.01441	0	91	57		
SH3BP5	9467	broad.mit.edu	37	3	15297659	15297659	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:15297659G>A	ENST00000383791.3	-	9	1522	c.1302C>T	c.(1300-1302)ctC>ctT	p.L434L	SH3BP5_ENST00000253688.5_Silent_p.L277L|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.L277L|SH3BP5_ENST00000426925.1_Silent_p.L277L|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	434					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACTGTAGGGAGAGCTGCTTCA	0.552																																						uc003bzp.1		NaN																	0					0						c.(1300-1302)CTC>CTT		SH3-domain binding protein 5 (BTK-associated)							183.0	166.0	172.0					3																	15297659		2203	4300	6503	SO:0001819	synonymous_variant	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15297659G>A	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.1302C>T	3.37:g.15297659G>A						SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Silent_p.L277L|SH3BP5_uc003bzr.1_Silent_p.L277L|uc003bzo.1_RNA	p.L434L	NM_004844	NP_004835	O60239	3BP5_HUMAN			9	1491	-			434	L->A: No change of phosphorylation or binding by phospho-JNK; when associated with A-436.				B3KQW6|Q5JWV9	Silent	SNP	ENST00000383791.3	37	c.1302C>T	CCDS2625.2																																																																																				0.552	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2		NM_004844		170	150	0	0	0	0.01441	0	170	150		
DYNC1LI1	51143	broad.mit.edu	37	3	32582547	32582547	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:32582547T>C	ENST00000273130.4	-	5	823	c.720A>G	c.(718-720)gtA>gtG	p.V240V	DYNC1LI1_ENST00000432458.2_Silent_p.V124V	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	240					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						AAACTACTAGTACTGGAATGC	0.413																																						uc003cfb.3		NaN																	0				ovary(1)	1						c.(718-720)GTA>GTG		dynein, cytoplasmic 1, light intermediate chain							200.0	183.0	189.0					3																	32582547		2203	4300	6503	SO:0001819	synonymous_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32582547T>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.720A>G	3.37:g.32582547T>C						DYNC1LI1_uc011axh.1_Silent_p.V124V	p.V240V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			5	808	-			240					A2RRG7|Q53HC8|Q53HK7	Silent	SNP	ENST00000273130.4	37	c.720A>G	CCDS2654.1																																																																																				0.413	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1		NM_016141		26	440	0	0	0	0.004878	0	26	440		
CNOT10	25904	broad.mit.edu	37	3	32814971	32814971	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:32814971G>C	ENST00000328834.5	+	19	2419	c.2103G>C	c.(2101-2103)caG>caC	p.Q701H	CNOT10_ENST00000331889.6_Missense_Mutation_p.Q674H|CNOT10_ENST00000454516.2_Missense_Mutation_p.Q761H	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	701					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGGCCTTACAGATCATCAAAA	0.443																																						uc003cfc.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(2101-2103)CAG>CAC		CCR4-NOT transcription complex, subunit 10							186.0	194.0	191.0					3																	32814971		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32814971G>C	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.2103G>C	3.37:g.32814971G>C	ENSP00000330060:p.Gln701His					CNOT10_uc003cfd.1_Missense_Mutation_p.Q700H|CNOT10_uc003cfe.1_Missense_Mutation_p.Q674H|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Q761H|CNOT10_uc010hfw.1_Missense_Mutation_p.Q396H	p.Q701H	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			19	2358	+			701					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.2103G>C	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252770	0.80135	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516	T;T;T	0.31510	1.49;1.49;1.49	5.92	5.05	0.67936	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.975;0.992;0.997;0.97	T	0.38845	-0.9642	10	0.34782	T	0.22	-17.2954	12.3621	0.55209	0.1359:0.0:0.8641:0.0	.	761;674;700;701	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	H	674;701;761	ENSP00000329376:Q674H;ENSP00000330060:Q701H;ENSP00000399862:Q761H	ENSP00000330060:Q701H	Q	+	3	2	CNOT10	32789975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.805000	0.75191	1.513000	0.48852	0.557000	0.71058	CAG		0.443	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2		NM_015442		116	315	0	0	0	0.01441	0	116	315		
DLEC1	9940	broad.mit.edu	37	3	38080973	38080973	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:38080973C>T	ENST00000308059.6	+	1	278	c.257C>T	c.(256-258)tCg>tTg	p.S86L	DLEC1_ENST00000346219.3_Missense_Mutation_p.S86L|DLEC1_ENST00000452631.2_Missense_Mutation_p.S86L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGCCCCTCCTCGCTGCGCACC	0.652																																						uc003cho.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(256-258)TCG>TTG		deleted in lung and esophageal cancer 1 isoform							38.0	43.0	42.0					3																	38080973		2031	4182	6213	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38080973C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.257C>T	3.37:g.38080973C>T	ENSP00000308597:p.Ser86Leu					DLEC1_uc003chp.1_Missense_Mutation_p.S86L|DLEC1_uc010hgv.1_Missense_Mutation_p.S86L	p.S86L	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	278	+			86						Missense_Mutation	SNP	ENST00000308059.6	37	c.257C>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644694	0.67358	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10005	2.95;2.92;3.18	5.17	5.17	0.71159	.	0.155465	0.44688	D	0.000428	T	0.33323	0.0859	M	0.74881	2.28	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.03112	-1.1071	10	0.87932	D	0	-7.3943	14.5005	0.67719	0.0:1.0:0.0:0.0	.	86;86;86	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	L	86	ENSP00000308597:S86L;ENSP00000315914:S86L;ENSP00000410427:S86L	ENSP00000308597:S86L	S	+	2	0	DLEC1	38055977	0.996000	0.38824	1.000000	0.80357	0.089000	0.18198	3.552000	0.53705	2.557000	0.86248	0.511000	0.50034	TCG		0.652	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3		NM_007337		26	64	0	0	0	0.009535	0	26	64		
XIRP1	165904	broad.mit.edu	37	3	39228574	39228574	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:39228574C>T	ENST00000340369.3	-	2	2591	c.2363G>A	c.(2362-2364)gGa>gAa	p.G788E	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G788E	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	788					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGATGCCTCCATGGTGCAG	0.622																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2362-2364)GGA>GAA		xin actin-binding repeat containing 1							61.0	61.0	61.0					3																	39228574		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228574C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2363G>A	3.37:g.39228574C>T	ENSP00000343140:p.Gly788Glu					XIRP1_uc003cji.2_Missense_Mutation_p.G788E|XIRP1_uc003cjj.2_Intron	p.G788E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2584	-			788					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2363G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282686	0.40394	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04502	3.61;4.0	4.11	4.11	0.48088	.	0.256356	0.38111	N	0.001808	T	0.09335	0.0230	L	0.57536	1.79	0.80722	D	1	P;P	0.51057	0.941;0.634	P;B	0.51895	0.683;0.178	T	0.07424	-1.0773	10	0.31617	T	0.26	.	7.9355	0.29927	0.0:0.8892:0.0:0.1108	.	788;788	Q702N8;Q702N8-2	XIRP1_HUMAN;.	E	788	ENSP00000379550:G788E;ENSP00000343140:G788E	ENSP00000343140:G788E	G	-	2	0	XIRP1	39203578	0.000000	0.05858	0.820000	0.32676	0.990000	0.78478	0.974000	0.29436	2.310000	0.77875	0.563000	0.77884	GGA		0.622	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		35	35	0	0	0	0.004878	0	35	35		
XIRP1	165904	broad.mit.edu	37	3	39228623	39228623	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:39228623C>T	ENST00000340369.3	-	2	2542	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E772K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	772					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGGTCCCCTCAGCTGCAGTC	0.632																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2314-2316)GAG>AAG		xin actin-binding repeat containing 1							60.0	58.0	59.0					3																	39228623		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228623C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2314G>A	3.37:g.39228623C>T	ENSP00000343140:p.Glu772Lys					XIRP1_uc003cji.2_Missense_Mutation_p.E772K|XIRP1_uc003cjj.2_Intron	p.E772K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2535	-			772					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2314G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.506	-0.550736	0.03996	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04970	3.52;3.91	4.11	3.22	0.36961	.	0.652617	0.14788	N	0.298401	T	0.04998	0.0134	L	0.31207	0.915	0.18873	N	0.999989	B;B	0.24368	0.028;0.102	B;B	0.27380	0.01;0.079	T	0.42155	-0.9468	10	0.08179	T	0.78	.	9.7879	0.40688	0.0:0.7557:0.2443:0.0	.	772;772	Q702N8;Q702N8-2	XIRP1_HUMAN;.	K	772	ENSP00000379550:E772K;ENSP00000343140:E772K	ENSP00000343140:E772K	E	-	1	0	XIRP1	39203627	0.008000	0.16893	0.375000	0.26029	0.075000	0.17131	1.478000	0.35442	1.055000	0.40461	0.563000	0.77884	GAG		0.632	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		27	35	0	0	0	0.013726	0	27	35		
ZNF502	91392	broad.mit.edu	37	3	44763165	44763165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:44763165C>T	ENST00000296091.4	+	4	1112	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	ZNF502_ENST00000436624.2_Nonsense_Mutation_p.Q286*|ZNF502_ENST00000449836.1_Nonsense_Mutation_p.Q286*	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TATTCATCATCAGAGAATTCA	0.403																																						uc011baa.1		NaN																	0					0						c.(856-858)CAG>TAG		zinc finger protein 502							191.0	198.0	196.0					3																	44763165		2203	4300	6503	SO:0001587	stop_gained	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763165C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.856C>T	3.37:g.44763165C>T	ENSP00000296091:p.Gln286*					ZNF502_uc003cns.2_Nonsense_Mutation_p.Q286*|ZNF502_uc011bab.1_Nonsense_Mutation_p.Q286*|ZNF502_uc003cnt.2_Nonsense_Mutation_p.Q286*	p.Q286*	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1111	+			286			C2H2-type 5.			Nonsense_Mutation	SNP	ENST00000296091.4	37	c.856C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064099	0.76187	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	.	.	.	4.01	0.955	0.19602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	3.3765	0.07239	0.307:0.4558:0.1495:0.0878	.	.	.	.	X	286	.	ENSP00000296091:Q286X	Q	+	1	0	ZNF502	44738169	0.002000	0.14202	0.827000	0.32855	0.990000	0.78478	0.033000	0.13754	0.070000	0.16634	0.655000	0.94253	CAG		0.403	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4		NM_033210		169	261	0	0	0	0.01441	0	169	261		
USP4	7375	broad.mit.edu	37	3	49372916	49372916	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:49372916G>A	ENST00000265560.4	-	2	261	c.215C>T	c.(214-216)tCt>tTt	p.S72F	USP4_ENST00000351842.4_Missense_Mutation_p.S72F|USP4_ENST00000416417.1_Missense_Mutation_p.S72F|USP4_ENST00000415188.1_Missense_Mutation_p.S72F	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	72	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AAATAGCCCAGAGTTGTCTAT	0.453																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(214-216)TCT>TTT		ubiquitin specific protease 4 isoform a							118.0	103.0	108.0					3																	49372916		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49372916G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.215C>T	3.37:g.49372916G>A	ENSP00000265560:p.Ser72Phe					USP4_uc003cwr.2_Missense_Mutation_p.S72F	p.S72F	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	2	294	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	72			DUSP.		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.215C>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978055	0.74360	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.38560	1.63;1.76;1.13	5.16	5.16	0.70880	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.983;0.99	T	0.78986	-0.1987	10	0.87932	D	0	-15.8316	16.4903	0.84199	0.0:0.0:1.0:0.0	.	72;72	Q13107-2;Q13107	.;UBP4_HUMAN	F	72	ENSP00000341028:S72F;ENSP00000265560:S72F;ENSP00000400623:S72F	ENSP00000265560:S72F	S	-	2	0	USP4	49347920	1.000000	0.71417	0.985000	0.45067	0.614000	0.37383	9.215000	0.95146	2.561000	0.86390	0.462000	0.41574	TCT		0.453	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		45	59	0	0	0	0.01441	0	45	59		
HYAL1	3373	broad.mit.edu	37	3	50340340	50340340	+	Silent	SNP	G	G	T	rs377440947		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:50340340G>T	ENST00000266031.4	-	1	663	c.48C>A	c.(46-48)ctC>ctA	p.L16L	HYAL1_ENST00000395144.2_Silent_p.L16L|HYAL1_ENST00000395143.2_Silent_p.L16L|HYAL1_ENST00000320295.8_Silent_p.L16L|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Intron			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	16					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCCATATCGAGTAAGGTCA	0.627																																						uc003czp.2		NaN																	0				lung(1)	1						c.(46-48)CTC>CTA		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						43.0	46.0	45.0					3																	50340340		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340340G>T	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.48C>A	3.37:g.50340340G>T						HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Silent_p.L16L|HYAL1_uc003czr.2_Silent_p.L16L|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Silent_p.L16L|HYAL1_uc003czt.2_Silent_p.L16L	p.L16L	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	180	-			16					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.48C>A	CCDS2816.1																																																																																				0.627	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1				21	45	1	0	3.01185e-09	0.003954	3.18412e-09	21	45		
DNAH1	25981	broad.mit.edu	37	3	52417423	52417423	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:52417423G>A	ENST00000420323.2	+	51	8224	c.7963G>A	c.(7963-7965)Gaa>Aaa	p.E2655K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2655	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCTTCCTGGAAGATATCAA	0.522																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(7963-7965)GAA>AAA		dynein, axonemal, heavy chain 1							77.0	75.0	76.0					3																	52417423		1975	4159	6134	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417423G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7963G>A	3.37:g.52417423G>A	ENSP00000401514:p.Glu2655Lys					DNAH1_uc003ddv.2_5'Flank	p.E2655K	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8224	+			2655			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7963G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579175	0.96565	.	.	ENSG00000114841	ENST00000420323	T	0.46451	0.87	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000058	T	0.80336	0.4604	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89217	0.3568	10	0.87932	D	0	.	18.2075	0.89859	0.0:0.0:1.0:0.0	.	2655	C9JXH6	.	K	2655	ENSP00000401514:E2655K	ENSP00000401514:E2655K	E	+	1	0	DNAH1	52392463	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.317000	0.96327	2.524000	0.85096	0.655000	0.94253	GAA		0.522	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		27	46	0	0	0	0.008361	0	27	46		
NEK4	6787	broad.mit.edu	37	3	52775460	52775460	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:52775460G>A	ENST00000233027.5	-	13	2262	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L	NEK4_ENST00000383721.4_Missense_Mutation_p.S641L|NEK4_ENST00000535191.1_Missense_Mutation_p.S598L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	687					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTTATCAGTTGAACTTGTAGA	0.328																																						uc003dfq.3		NaN																	0				large_intestine(1)	1						c.(2059-2061)TCA>TTA		NIMA-related kinase 4							127.0	121.0	123.0					3																	52775460		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52775460G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2060C>T	3.37:g.52775460G>A	ENSP00000233027:p.Ser687Leu					NEK4_uc011bej.1_Missense_Mutation_p.S598L|NEK4_uc003dfr.2_Missense_Mutation_p.S641L	p.S687L	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	13	2249	-			687					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2060C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086013	0.94100	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;D;T	0.84298	2.23;2.23;-1.83;2.23	5.76	5.76	0.90799	.	0.000000	0.53938	D	0.000044	D	0.91938	0.7447	M	0.74258	2.255	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90701	0.4620	10	0.41790	T	0.15	.	17.2383	0.87006	0.0:0.0:1.0:0.0	.	598;641;687	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	L	687;598;641;598	ENSP00000233027:S687L;ENSP00000437703:S598L;ENSP00000373227:S641L;ENSP00000419666:S598L	ENSP00000233027:S687L	S	-	2	0	NEK4	52750500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.882000	0.98803	0.655000	0.94253	TCA		0.328	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2		NM_003157		52	94	0	0	0	0.01441	0	52	94		
ASB14	142686	broad.mit.edu	37	3	57312522	57312522	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:57312522C>T	ENST00000389601.3	-	9	1434	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	ASB14_ENST00000487349.1_Silent_p.R438R	NM_130387.5	NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	438					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCAGCAGCATCCTGAGCATGA	0.453																																						uc003diq.2		NaN																	0					0						c.(820-822)AGG>AGA		ankyrin repeat and SOCS box-containing 14							174.0	168.0	170.0					3																	57312522		2203	4300	6503	SO:0001819	synonymous_variant	142686				intracellular signal transduction			g.chr3:57312522C>T	AF403032	CCDS46856.1, CCDS46856.2	3p21.1	2013-01-10	2011-01-25			ENSG00000239388		"""Ankyrin repeat domain containing"""	19766	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 14"""			12076535	Standard	NM_130387		Approved	DKFZp313L0121	uc021wzs.1	A6NK59		ENST00000389601.3:c.1314G>A	3.37:g.57312522C>T						ASB14_uc003dip.1_Silent_p.R153R	p.R274R	NM_001142733	NP_001136205	A6NK59	ASB14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	8	1410	-			438			ANK 11.		C9JX97|Q8WXK2|Q92816	Silent	SNP	ENST00000389601.3	37	c.822G>A																																																																																					0.453	ASB14-201	KNOWN	basic	protein_coding	protein_coding					108	152	0	0	0	0.01441	0	108	152		
PTPRG	5793	broad.mit.edu	37	3	62189597	62189597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:62189597G>C	ENST00000474889.1	+	12	2505	c.2128G>C	c.(2128-2130)Gac>Cac	p.D710H	PTPRG_ENST00000295874.10_Missense_Mutation_p.D710H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	710					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTTCTGAAGACAGCAGATT	0.512																																						uc003dlb.2		NaN																	0				ovary(5)|lung(2)	7						c.(2128-2130)GAC>CAC		protein tyrosine phosphatase, receptor type, G							42.0	49.0	47.0					3																	62189597		2189	4266	6455	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.chr3:62189597G>C	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.2128G>C	3.37:g.62189597G>C	ENSP00000418112:p.Asp710His					PTPRG_uc003dlc.2_Missense_Mutation_p.D710H	p.D710H	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)	12	2847	+			710			Extracellular (Potential).		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2128G>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828374	0.50845	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.52526	0.68;0.66	5.5	5.5	0.81552	.	0.347592	0.30003	N	0.010642	T	0.58090	0.2098	L	0.41236	1.265	0.48762	D	0.9997	D;P	0.55385	0.971;0.93	P;P	0.60473	0.875;0.459	T	0.52094	-0.8621	10	0.33940	T	0.23	.	18.1741	0.89756	0.0:0.0:1.0:0.0	.	710;710	P23470-2;P23470	.;PTPRG_HUMAN	H	710	ENSP00000418112:D710H;ENSP00000295874:D710H	ENSP00000295874:D710H	D	+	1	0	PTPRG	62164637	1.000000	0.71417	0.994000	0.49952	0.314000	0.28054	5.459000	0.66685	2.576000	0.86940	0.655000	0.94253	GAC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841		20	54	0	0	0	0.00632	0	20	54		
SYNPR	132204	broad.mit.edu	37	3	63542282	63542282	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:63542282G>C	ENST00000295894.5	+	3	582	c.213G>C	c.(211-213)ttG>ttC	p.L71F	SYNPR_ENST00000465156.1_Missense_Mutation_p.L71F|SYNPR_ENST00000479198.1_Missense_Mutation_p.L71F|SYNPR_ENST00000460711.1_Missense_Mutation_p.L82F|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000478300.1_Missense_Mutation_p.L91F	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	71	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGCTGGCATTGATTGGTGACT	0.488																																					NSCLC(29;1052 1116 20025 32519)	uc003dlq.2		NaN																	0					0						c.(211-213)TTG>TTC		synaptoporin isoform 2							73.0	80.0	78.0					3																	63542282		2034	4196	6230	SO:0001583	missense	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63542282G>C	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.213G>C	3.37:g.63542282G>C	ENSP00000295894:p.Leu71Phe					SYNPR_uc003dlp.2_Missense_Mutation_p.L91F|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Missense_Mutation_p.L80F|SYNPR_uc011bfm.1_Intron	p.L71F	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	3	582	+			71			MARVEL.|Vesicular (Potential).		B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	37	c.213G>C	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409686	0.83340	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000479198;ENST00000460711;ENST00000465156	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.78	5.78	0.91487	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.73534	-0.3952	10	0.87932	D	0	-14.9353	18.996	0.92813	0.0:0.0:1.0:0.0	.	82;71;91	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	F	91;71;71;82;71	ENSP00000418994:L91F;ENSP00000295894:L71F;ENSP00000418929:L71F;ENSP00000418701:L82F;ENSP00000418123:L71F	ENSP00000295894:L71F	L	+	3	2	SYNPR	63517322	0.983000	0.35010	0.992000	0.48379	0.997000	0.91878	1.592000	0.36676	2.722000	0.93159	0.655000	0.94253	TTG		0.488	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1				12	21	0	0	0	0.013537	0	12	21		
ROBO1	6091	broad.mit.edu	37	3	78649319	78649319	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:78649319C>G	ENST00000464233.1	-	30	4998	c.4885G>C	c.(4885-4887)Gaa>Caa	p.E1629Q	ROBO1_ENST00000436010.2_Missense_Mutation_p.E1590Q|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1584Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.E1529Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1629					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCTGCATTTCTGCAATATTT	0.378																																						uc003dqe.2		NaN																	0				large_intestine(2)	2						c.(4885-4887)GAA>CAA		roundabout 1 isoform a							173.0	159.0	163.0					3																	78649319		1871	4091	5962	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78649319C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4885G>C	3.37:g.78649319C>G	ENSP00000420321:p.Glu1629Gln					ROBO1_uc003dqb.2_Missense_Mutation_p.E1590Q|ROBO1_uc003dqc.2_Missense_Mutation_p.E1529Q|ROBO1_uc003dqd.2_Missense_Mutation_p.E1584Q|ROBO1_uc010hoh.2_Missense_Mutation_p.E821Q	p.E1629Q	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	30	5093	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1629			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4885G>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696681	0.88830	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.62941	0.08;0.05;0.06;-0.01	5.61	5.61	0.85477	.	0.087382	0.85682	D	0.000000	T	0.49098	0.1537	N	0.14661	0.345	0.53005	D	0.999966	B;P;B;P	0.44816	0.167;0.596;0.246;0.844	B;B;B;B	0.41088	0.046;0.142;0.081;0.347	T	0.46303	-0.9201	9	.	.	.	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1629;1584;1529;1590	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	Q	1590;1584;1629;1584;1529;1633	ENSP00000406043:E1590Q;ENSP00000420321:E1629Q;ENSP00000420637:E1584Q;ENSP00000417992:E1529Q	.	E	-	1	0	ROBO1	78732009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.457000	0.73505	2.652000	0.90054	0.555000	0.69702	GAA		0.378	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		9	28	0	0	0	0.013537	0	9	28		
VGLL3	389136	broad.mit.edu	37	3	87018080	87018080	+	Silent	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:87018080A>G	ENST00000398399.2	-	3	960	c.597T>C	c.(595-597)ccT>ccC	p.P199P	VGLL3_ENST00000383698.3_Silent_p.P199P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587																																						uc003dqn.2		NaN																	0					0						c.(595-597)CCT>CCC		colon carcinoma related protein							71.0	74.0	73.0					3																	87018080		2084	4227	6311	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018080A>G	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.597T>C	3.37:g.87018080A>G							p.P199P	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	961	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	199						Silent	SNP	ENST00000398399.2	37	c.597T>C	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	7.174	0.588142	0.13812	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.81	3.27	0.37495	.	.	.	.	.	T	0.60470	0.2271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	-10.0885	10.7033	0.45939	0.7387:0.0:0.0:0.2613	.	.	.	.	P	133	.	.	S	-	1	0	VGLL3	87100770	0.995000	0.38212	1.000000	0.80357	0.764000	0.43329	0.314000	0.19432	0.988000	0.38734	0.418000	0.28097	TCC		0.587	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1		NM_016206		3	153	0	0	0	0.004672	0	3	153		
KIAA2018	205717	broad.mit.edu	37	3	113378792	113378792	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:113378792C>G	ENST00000478658.1	-	5	1754	c.1737G>C	c.(1735-1737)caG>caC	p.Q579H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q579H			Q68DE3	K2018_HUMAN	KIAA2018	579						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATTACTATCTGTTGACCTA	0.468																																						uc003eam.2		NaN																	0				skin(2)|ovary(1)	3						c.(1735-1737)CAG>CAC		hypothetical protein LOC205717							209.0	206.0	207.0					3																	113378792		1978	4160	6138	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378792C>G	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1737G>C	3.37:g.113378792C>G	ENSP00000420721:p.Gln579His					KIAA2018_uc003eal.2_Missense_Mutation_p.Q523H	p.Q579H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2148	-			579					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1737G>C	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782428	0.16189	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13778	2.56;2.56	5.42	3.62	0.41486	.	0.066209	0.64402	D	0.000007	T	0.06416	0.0165	N	0.12182	0.205	0.50467	D	0.999879	P	0.38020	0.615	B	0.36134	0.218	T	0.44711	-0.9310	10	0.18276	T	0.48	-5.5074	6.7694	0.23585	0.0:0.6035:0.0:0.3965	.	579	Q68DE3	K2018_HUMAN	H	579	ENSP00000320794:Q579H;ENSP00000420721:Q579H	ENSP00000320794:Q579H	Q	-	3	2	KIAA2018	114861482	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.556000	0.23438	0.644000	0.30656	0.650000	0.86243	CAG		0.468	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		8	159	0	0	0	0.013537	0	8	159		
DRD3	1814	broad.mit.edu	37	3	113847752	113847752	+	Silent	SNP	G	G	A	rs374634853		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:113847752G>A	ENST00000460779.1	-	8	1303	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	DRD3_ENST00000383673.2_Silent_p.F338F|DRD3_ENST00000467632.1_Silent_p.F338F|DRD3_ENST00000295881.7_Silent_p.F305F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	338					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCAGACAATGAAGGCCCCTA	0.483																																						uc003ebd.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1012-1014)TTC>TTT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	G	,	6,4400	11.4+/-27.6	0,6,2197	107.0	108.0	108.0		1014,915	3.5	1.0	3		108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DRD3	NM_000796.3,NM_033663.3	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	338/401,305/368	113847752	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847752G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1014C>T	3.37:g.113847752G>A						DRD3_uc010hqn.1_Silent_p.F338F|DRD3_uc003ebb.1_Silent_p.F305F|DRD3_uc003ebc.1_Silent_p.F338F	p.F338F	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1437	-			338			Helical; Name=6.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.1014C>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763329	0.15914	0.001362	0.0	ENSG00000151577	ENST00000281274	.	.	.	5.36	3.52	0.40303	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59193	-0.7500	5	0.39692	T	0.17	.	10.8962	0.47023	0.1578:0.0:0.8422:0.0	.	.	.	.	Y	306	.	ENSP00000281274:H306Y	H	-	1	0	DRD3	115330442	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.270000	0.43355	0.772000	0.33382	-0.224000	0.12420	CAT		0.483	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1		NM_000796.3		32	60	0	0	0	0.005524	0	32	60		
MYLK	4638	broad.mit.edu	37	3	123419015	123419015	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:123419015G>C	ENST00000475616.1	-	15	3299	c.3300C>G	c.(3298-3300)ttC>ttG	p.F1100L	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.F1100L|MYLK_ENST00000360772.3_Missense_Mutation_p.F1100L|MYLK_ENST00000360304.3_Missense_Mutation_p.F1100L|MYLK_ENST00000346322.5_Missense_Mutation_p.F1031L			Q15746	MYLK_HUMAN	myosin light chain kinase	1100	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				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)			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)		GCTTCTGCTTGAAGGCTGGGG	0.532																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(3298-3300)TTC>TTG		myosin light chain kinase isoform 1							117.0	117.0	117.0					3																	123419015		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.chr3:123419015G>C	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.3300C>G	3.37:g.123419015G>C	ENSP00000418335:p.Phe1100Leu					MYLK_uc011bjw.1_Missense_Mutation_p.F1100L|MYLK_uc003egp.2_Missense_Mutation_p.F1031L|MYLK_uc003egq.2_Missense_Mutation_p.F1100L|MYLK_uc003egr.2_Missense_Mutation_p.F1031L|MYLK_uc003egs.2_Missense_Mutation_p.F924L|MYLK_uc003egt.2_Missense_Mutation_p.F291L	p.F1100L	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	3582	-		Lung NSC(201;0.0496)	1100			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.		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.3300C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973561	0.34848	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.76	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80628	0.4659	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.998;0.999	D;D;D;D;D;D	0.91635	0.997;0.982;0.997;0.999;0.997;0.998	T	0.81466	-0.0920	9	0.66056	D	0.02	.	9.2616	0.37616	0.2042:0.0:0.7958:0.0	.	1100;178;1031;1100;1031;1100	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	L	1100;1100;1100;1031;1100	ENSP00000354004:F1100L;ENSP00000353452:F1100L;ENSP00000352088:F1100L;ENSP00000320622:F1031L;ENSP00000418335:F1100L	ENSP00000320622:F1031L	F	-	3	2	MYLK	124901705	1.000000	0.71417	0.987000	0.45799	0.026000	0.11368	1.797000	0.38804	1.447000	0.47661	0.555000	0.69702	TTC		0.532	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		36	62	0	0	0	0.007835	0	36	62		
KALRN	8997	broad.mit.edu	37	3	124413237	124413237	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:124413237G>A	ENST00000291478.5	+	20	2536	c.2373G>A	c.(2371-2373)gtG>gtA	p.V791V	KALRN_ENST00000428018.2_Silent_p.V759V|KALRN_ENST00000360013.3_Silent_p.V2488V|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2487					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)			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						GGGACACAGTGATACTGCAGT	0.493																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7462-7464)GTG>GTA		kalirin, RhoGEF kinase isoform 1							166.0	148.0	154.0					3																	124413237		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.chr3:124413237G>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.2373G>A	3.37:g.124413237G>A						KALRN_uc003ehk.2_Silent_p.V791V	p.V2488V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			53	7591	+			2487			Ig-like C2-type.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.7464G>A	CCDS3028.1																																																																																				0.493	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947		48	104	0	0	0	0.01441	0	48	104		
HEG1	57493	broad.mit.edu	37	3	124739800	124739800	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:124739800G>C	ENST00000311127.4	-	4	1155	c.1088C>G	c.(1087-1089)tCc>tGc	p.S363C	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	363					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCAATTCTGGAGTCCTTGGG	0.527																																						uc003ehs.3		NaN																	0				ovary(2)	2						c.(1087-1089)TCC>TGC		HEG homolog 1 precursor							103.0	108.0	106.0					3																	124739800		2000	4182	6182	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739800G>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1088C>G	3.37:g.124739800G>C	ENSP00000311502:p.Ser363Cys					HEG1_uc011bke.1_Missense_Mutation_p.S363C	p.S363C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			4	1156	-			363			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1088C>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994766	0.54041	.	.	ENSG00000173706	ENST00000311127	T	0.51071	0.72	5.02	4.14	0.48551	.	.	.	.	.	T	0.60856	0.2301	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.66979	0.948;0.888	T	0.50440	-0.8828	9	0.66056	D	0.02	.	9.0853	0.36577	0.0986:0.0:0.9014:0.0	.	363;363	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	C	363	ENSP00000311502:S363C	ENSP00000311502:S363C	S	-	2	0	HEG1	126222490	0.147000	0.22687	0.010000	0.14722	0.037000	0.13140	4.218000	0.58554	1.342000	0.45619	0.655000	0.94253	TCC		0.527	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2		XM_087386		13	32	0	0	0	0.001855	0	13	32		
ZXDC	79364	broad.mit.edu	37	3	126185066	126185066	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:126185066C>G	ENST00000389709.3	-	5	1426	c.1373G>C	c.(1372-1374)tGc>tCc	p.C458S	ZXDC_ENST00000336332.5_Missense_Mutation_p.C458S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	458					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GAGTCTGTTGCAGGTAGAAAC	0.572																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(1372-1374)TGC>TCC		ZXD family zinc finger C isoform 1							83.0	92.0	89.0					3																	126185066		2158	4275	6433	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126185066C>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1373G>C	3.37:g.126185066C>G	ENSP00000374359:p.Cys458Ser					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.C458S	p.C458S	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1427	-			458			C2H2-type 10.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1373G>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386344	0.61956	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.39787	1.06;1.06	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.65380	-0.6182	10	0.87932	D	0	-16.9884	16.6406	0.85098	0.0:1.0:0.0:0.0	.	458;458	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	S	458	ENSP00000374359:C458S;ENSP00000337694:C458S	ENSP00000337694:C458S	C	-	2	0	ZXDC	127667756	1.000000	0.71417	0.961000	0.40146	0.122000	0.20287	7.579000	0.82511	2.593000	0.87608	0.591000	0.81541	TGC		0.572	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		20	43	0	0	0	0.00632	0	20	43		
RUVBL1	8607	broad.mit.edu	37	3	127800229	127800229	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:127800229G>A	ENST00000322623.5	-	11	1334	c.1235C>T	c.(1234-1236)cCg>cTg	p.P412L	RUVBL1-AS1_ENST00000485218.1_RNA|RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Silent_p.P381P|RUVBL1_ENST00000480616.1_5'Flank	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	412					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CAAGTTGGCCGGGGTCAGCAG	0.537																																						uc003ekh.2		NaN																	0				skin(1)	1						c.(1234-1236)CCG>CTG		RuvB-like 1							88.0	81.0	84.0					3																	127800229		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127800229G>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1235C>T	3.37:g.127800229G>A	ENSP00000318297:p.Pro412Leu					RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Silent_p.P381P	p.P412L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	11	1339	-			412					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.1235C>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273591	0.95459	.	.	ENSG00000175792	ENST00000322623;ENST00000478892	T	0.64618	-0.11	5.25	5.25	0.73442	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86530	0.1821	10	0.59425	D	0.04	-30.729	18.8651	0.92289	0.0:0.0:1.0:0.0	.	412	Q9Y265	RUVB1_HUMAN	L	412;223	ENSP00000318297:P412L	ENSP00000318297:P412L	P	-	2	0	RUVBL1	129282919	1.000000	0.71417	0.945000	0.38365	0.975000	0.68041	9.609000	0.98334	2.445000	0.82738	0.591000	0.81541	CCG		0.537	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2				3	48	0	0	0	0.009096	0	3	48		
COL6A6	131873	broad.mit.edu	37	3	130282479	130282479	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:130282479A>G	ENST00000358511.6	+	2	663	c.632A>G	c.(631-633)gAg>gGg	p.E211G	COL6A6_ENST00000453409.2_Missense_Mutation_p.E211G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	211	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGTACAAGGAGGGAGCAGTT	0.403																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(631-633)GAG>GGG		collagen type VI alpha 6 precursor							63.0	62.0	62.0					3																	130282479		1967	4144	6111	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282479A>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.632A>G	3.37:g.130282479A>G	ENSP00000351310:p.Glu211Gly						p.E211G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	663	+			211			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.632A>G	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329114	0.24167	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89875	-2.57;-2.58	5.3	2.71	0.32032	.	1.269910	0.05218	N	0.508031	D	0.86892	0.6042	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.70328	-0.4902	10	0.30854	T	0.27	.	9.4416	0.38673	0.56:0.44:0.0:0.0	.	211	A6NMZ7	CO6A6_HUMAN	G	211	ENSP00000351310:E211G;ENSP00000399236:E211G	ENSP00000351310:E211G	E	+	2	0	COL6A6	131765169	0.027000	0.19231	0.022000	0.16811	0.041000	0.13682	0.131000	0.15870	0.937000	0.37394	0.459000	0.35465	GAG		0.403	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		4	59	0	0	0	0.001168	0	4	59		
DNAJC13	23317	broad.mit.edu	37	3	132213965	132213965	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:132213965C>G	ENST00000260818.6	+	35	4223	c.3975C>G	c.(3973-3975)ttC>ttG	p.F1325L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1325	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGCTTACTTCAGACTTGCAC	0.378																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(3973-3975)TTC>TTG		DnaJ (Hsp40) homolog, subfamily C, member 13							82.0	76.0	78.0					3																	132213965		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132213965C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3975C>G	3.37:g.132213965C>G	ENSP00000260818:p.Phe1325Leu						p.F1325L	NM_015268	NP_056083	O75165	DJC13_HUMAN			35	4040	+			1325			J.		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3975C>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554833	0.86231	.	.	ENSG00000138246	ENST00000260818	T	0.26957	1.7	5.91	5.03	0.67393	Heat shock protein DnaJ, N-terminal (4);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	N	0.13299	0.325	0.58432	D	0.999999	D	0.59357	0.985	D	0.72338	0.977	T	0.16748	-1.0392	10	0.48119	T	0.1	.	12.4952	0.55923	0.0:0.864:0.0:0.136	.	1325	O75165	DJC13_HUMAN	L	1325	ENSP00000260818:F1325L	ENSP00000260818:F1325L	F	+	3	2	DNAJC13	133696655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.905000	0.56333	1.476000	0.48215	0.655000	0.94253	TTC		0.378	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		16	36	0	0	0	0.008871	0	16	36		
NMD3	51068	broad.mit.edu	37	3	160968072	160968072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:160968072G>A	ENST00000460469.1	+	14	1794	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	NMD3_ENST00000351193.2_Missense_Mutation_p.E447K|NMD3_ENST00000472947.1_Missense_Mutation_p.E447K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	447	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGAAGATCTTGAAGAAGATGA	0.279																																						uc003feb.1		NaN																	0				ovary(1)	1						c.(1339-1341)GAA>AAA		NMD3 homolog							79.0	81.0	80.0					3																	160968072		2203	4296	6499	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160968072G>A	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1339G>A	3.37:g.160968072G>A	ENSP00000419004:p.Glu447Lys					NMD3_uc003fec.2_Missense_Mutation_p.E447K|NMD3_uc003fed.1_Missense_Mutation_p.E447K	p.E447K	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		15	1458	+			447			Necessary for the nuclear export of the 60S ribosomal subunit.		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.1339G>A	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154625	0.94686	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.22743	1.94;1.94;1.94	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.71192	-0.4665	10	0.87932	D	0	-7.5133	17.7996	0.88583	0.0:0.0:1.0:0.0	.	447;447	C9JA08;Q96D46	.;NMD3_HUMAN	K	447;447;447;327	ENSP00000307525:E447K;ENSP00000417559:E447K;ENSP00000419004:E447K	ENSP00000307525:E447K	E	+	1	0	NMD3	162450766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.338000	0.90038	2.515000	0.84797	0.655000	0.94253	GAA		0.279	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1		NM_015938		16	30	0	0	0	0.003954	0	16	30		
GHSR	2693	broad.mit.edu	37	3	172165775	172165775	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:172165775G>A	ENST00000241256.2	-	1	471	c.429C>T	c.(427-429)ttC>ttT	p.F143F	GHSR_ENST00000427970.1_Silent_p.F143F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	143					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCAGATGGCGAAGTAGCGCT	0.627																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1		NaN																	0				lung(3)|ovary(1)|central_nervous_system(1)	5						c.(427-429)TTC>TTT		growth hormone secretagogue receptor isoform 1a							63.0	60.0	61.0					3																	172165775		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165775G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.429C>T	3.37:g.172165775G>A						GHSR_uc011bpv.1_Silent_p.F143F	p.F143F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	429	-	Ovarian(172;0.00143)|Breast(254;0.197)		143			Cytoplasmic (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.429C>T	CCDS3218.1																																																																																				0.627	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1		NM_004122		10	29	0	0	0	0.008291	0	10	29		
EHHADH	1962	broad.mit.edu	37	3	184922354	184922354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:184922354C>T	ENST00000231887.3	-	6	835	c.760G>A	c.(760-762)Gag>Aag	p.E254K	EHHADH_ENST00000456310.1_Missense_Mutation_p.E158K	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	254	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AGAAACAGCTCCTCCTCCTTC	0.537																																						uc003fpf.2		NaN																	0				ovary(3)	3						c.(760-762)GAG>AAG		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						138.0	136.0	137.0					3																	184922354		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922354C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.760G>A	3.37:g.184922354C>T	ENSP00000231887:p.Glu254Lys					EHHADH_uc011brs.1_Missense_Mutation_p.E158K	p.E254K	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	787	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		254			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.760G>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530936	0.27387	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.72835	-0.69;-0.69	5.39	2.09	0.27110	.	0.340172	0.29838	N	0.011067	T	0.58337	0.2115	L	0.49778	1.585	0.80722	D	1	B	0.16396	0.017	B	0.17722	0.019	T	0.44620	-0.9316	10	0.30854	T	0.27	-10.3233	5.2838	0.15690	0.0:0.4978:0.2991:0.2031	.	254	Q08426	ECHP_HUMAN	K	254;254;158	ENSP00000231887:E254K;ENSP00000387746:E158K	ENSP00000231887:E254K	E	-	1	0	EHHADH	186405048	0.904000	0.30761	0.003000	0.11579	0.247000	0.25773	1.735000	0.38176	0.091000	0.17302	0.650000	0.86243	GAG		0.537	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1				44	104	0	0	0	0.01441	0	44	104		
ATP13A3	79572	broad.mit.edu	37	3	194159590	194159590	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:194159590C>G	ENST00000439040.1	-	17	2613	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E608Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	608						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			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)		CTCACCATTTCTTGGTTTCCT	0.348																																						uc003fty.3		NaN																	0				ovary(1)	1						c.(1822-1824)GAA>CAA		ATPase type 13A3							127.0	116.0	119.0					3																	194159590		1815	4073	5888	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.chr3:194159590C>G	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.1822G>C	3.37:g.194159590C>G	ENSP00000416508:p.Glu608Gln					ATP13A3_uc003ftz.1_Missense_Mutation_p.E314Q	p.E608Q	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)	16	2224	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	608					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1822G>C	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932214	0.52866	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.86230	-2.09;-2.09	5.88	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.345355	0.32719	N	0.005721	T	0.78729	0.4329	N	0.19112	0.55	0.41406	D	0.987709	B	0.06786	0.001	B	0.16722	0.016	T	0.72127	-0.4384	10	0.12766	T	0.61	-0.3321	17.7472	0.88424	0.1307:0.8693:0.0:0.0	.	608	Q9H7F0	AT133_HUMAN	Q	608;608;346	ENSP00000416508:E608Q;ENSP00000256031:E608Q	ENSP00000256031:E608Q	E	-	1	0	ATP13A3	195640879	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.853000	0.62911	2.789000	0.95967	0.655000	0.94253	GAA		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524		40	94	0	0	0	0.01441	0	40	94		
MUC20	200958	broad.mit.edu	37	3	195451911	195451911	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:195451911A>C	ENST00000447234.2	+	2	563	c.437A>C	c.(436-438)gAt>gCt	p.D146A	MUC20_ENST00000320736.6_Missense_Mutation_p.D146A|MUC20_ENST00000436408.1_Missense_Mutation_p.D146A|MUC20_ENST00000445522.2_Missense_Mutation_p.D111A	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	146			Missing.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTTTGCACCGATGACAGCTCT	0.557																																						uc010hzo.2		NaN																	0					0						c.(436-438)GAT>GCT		mucin 20 isoform L							252.0	232.0	238.0					3																	195451911		2041	4192	6233	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195451911A>C	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.437A>C	3.37:g.195451911A>C	ENSP00000414350:p.Asp146Ala					MUC20_uc010hzp.2_Missense_Mutation_p.D111A|MUC20_uc011bte.1_5'Flank	p.D146A	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	2	563	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.437A>C		.	.	.	.	.	.	.	.	.	.	A	16.30	3.083112	0.55861	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.23348	2.43;2.56;2.58;1.91	4.52	1.92	0.25849	.	0.644640	0.13772	N	0.363815	T	0.18002	0.0432	L	0.34521	1.04	0.09310	N	1	P	0.37101	0.582	B	0.38803	0.282	T	0.13442	-1.0509	10	0.52906	T	0.07	0.3608	4.4147	0.11450	0.5936:0.1908:0.0:0.2156	.	146	E9PH32	.	A	146;146;146;111	ENSP00000414350:D146A;ENSP00000325431:D146A;ENSP00000396774:D146A;ENSP00000405629:D111A	ENSP00000325431:D146A	D	+	2	0	MUC20	196937582	0.292000	0.24362	0.034000	0.17996	0.264000	0.26372	1.183000	0.32041	0.855000	0.35359	0.460000	0.39030	GAT		0.557	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1		NM_152673		17	343	0	0	0	0.01441	0	17	343		
LMLN	89782	broad.mit.edu	37	3	197701923	197701923	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:197701923G>A	ENST00000330198.4	+	3	350	c.328G>A	c.(328-330)Gag>Aag	p.E110K	LMLN_ENST00000332636.5_Missense_Mutation_p.E58K|LMLN_ENST00000420910.2_Missense_Mutation_p.E110K|LMLN_ENST00000482695.1_Missense_Mutation_p.E58K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	110					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTTGCTCCCTGAGAAAAAGAA	0.303																																						uc011buo.1		NaN																	0				skin(1)	1						c.(328-330)GAG>AAG		leishmanolysin-like isoform 2							63.0	77.0	72.0					3																	197701923		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197701923G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.328G>A	3.37:g.197701923G>A	ENSP00000328829:p.Glu110Lys					LMLN_uc003fyt.2_Missense_Mutation_p.E58K|LMLN_uc010iar.2_Missense_Mutation_p.E110K|LMLN_uc010ias.2_Missense_Mutation_p.E58K|LMLN_uc003fyu.2_5'UTR	p.E110K	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	3	350	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	110					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.328G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153301	0.57259	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.44	4.44	0.53790	.	0.129939	0.50627	D	0.000105	T	0.59932	0.2230	M	0.65320	2	0.44175	D	0.996989	B;D;D;B	0.54772	0.283;0.968;0.962;0.24	B;P;P;B	0.58970	0.42;0.849;0.676;0.295	T	0.62544	-0.6832	10	0.56958	D	0.05	-18.8437	12.4832	0.55856	0.0:0.0:1.0:0.0	.	110;58;110;58	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	K	58;110;38;110;58	ENSP00000418324:E58K;ENSP00000328829:E110K;ENSP00000390872:E38K;ENSP00000410926:E110K;ENSP00000328611:E58K	ENSP00000328829:E110K	E	+	1	0	LMLN	199186320	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.295000	0.65692	2.290000	0.77057	0.558000	0.71614	GAG		0.303	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1		NM_033029		28	69	0	0	0	0.004878	0	28	69		
MFSD7	84179	broad.mit.edu	37	4	675782	675782	+	Missense_Mutation	SNP	G	G	A	rs371278586		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:675782G>A	ENST00000404286.2	-	10	1663	c.1648C>T	c.(1648-1650)Cac>Tac	p.H550Y	MYL5_ENST00000505477.1_Silent_p.*133*|MYL5_ENST00000511290.1_Silent_p.*133*|MYL5_ENST00000400159.2_Silent_p.*174*|MFSD7_ENST00000322224.4_Missense_Mutation_p.H549Y|MFSD7_ENST00000347950.5_Missense_Mutation_p.H431Y|MYL5_ENST00000506838.1_Silent_p.*133*|MFSD7_ENST00000515118.1_Missense_Mutation_p.H453Y|MFSD7_ENST00000503156.1_3'UTR	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	550					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGAGGAGTGAGACCCAGCC	0.657																																						uc003gay.2		NaN																	0					0						c.(1648-1650)CAC>TAC		major facilitator superfamily domain containing							44.0	43.0	43.0					4																	675782		2195	4297	6492	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:675782G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1648C>T	4.37:g.675782G>A	ENSP00000384616:p.His550Tyr					MYL5_uc003gat.2_RNA|MYL5_uc003gau.2_RNA|MYL5_uc003gav.2_Silent_p.*174*|MFSD7_uc003gaw.2_Missense_Mutation_p.H292Y|MFSD7_uc003gax.2_Missense_Mutation_p.H549Y|MFSD7_uc003gaz.2_Missense_Mutation_p.H431Y|MFSD7_uc003gba.2_Missense_Mutation_p.H453Y|MFSD7_uc003gbb.1_3'UTR	p.H550Y	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			10	1705	-			550					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1648C>T		.	.	.	.	.	.	.	.	.	.	G	17.44	3.389647	0.61956	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.95885	-3.53;-2.98;-2.98;-3.84	4.1	0.756	0.18421	.	.	.	.	.	D	0.90198	0.6936	.	.	.	0.09310	N	0.999992	B;B;B;B	0.09022	0.002;0.002;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.0;0.001	T	0.81978	-0.0685	8	0.87932	D	0	.	3.3916	0.07291	0.4133:0.2046:0.3821:0.0	.	453;431;550;549	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	Y	431;549;550;453	ENSP00000307545:H431Y;ENSP00000320234:H549Y;ENSP00000384616:H550Y;ENSP00000423204:H453Y	ENSP00000320234:H549Y	H	-	1	0	MFSD7	665782	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.733000	0.04898	0.335000	0.23614	0.644000	0.83932	CAC		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219		5	24	0	0	0	0.00308	0	5	24		
GSX2	170825	broad.mit.edu	37	4	54968002	54968002	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:54968002G>C	ENST00000326902.2	+	2	1142	c.828G>C	c.(826-828)ggG>ggC	p.G276G	GSX2_ENST00000503800.1_3'UTR|GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	276					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGTGCGTCGGGAGCCAGGTGC	0.607																																						uc010igp.1		NaN																	0					0						c.(826-828)GGG>GGC		GS homeobox 2							64.0	63.0	63.0					4																	54968002		2203	4300	6503	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54968002G>C		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.828G>C	4.37:g.54968002G>C						PDGFRA_uc003haa.2_Intron	p.G276G	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	1092	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		276						Silent	SNP	ENST00000326902.2	37	c.828G>C	CCDS3494.1																																																																																				0.607	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1		NM_133267		10	25	0	0	0	0.006214	0	10	25		
LPHN3	23284	broad.mit.edu	37	4	62758676	62758676	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:62758676G>A	ENST00000514591.1	+	9	1908	c.1579G>A	c.(1579-1581)Ggt>Agt	p.G527S	LPHN3_ENST00000506746.1_Splice_Site_p.G595S|LPHN3_ENST00000506700.1_Splice_Site_p.G527S|LPHN3_ENST00000507164.1_Splice_Site_p.G595S|LPHN3_ENST00000507625.1_Splice_Site_p.G595S|LPHN3_ENST00000512091.2_Splice_Site_p.G527S|LPHN3_ENST00000508693.1_Splice_Site_p.G595S|LPHN3_ENST00000506720.1_Splice_Site_p.G595S|LPHN3_ENST00000508946.1_Splice_Site_p.G527S|LPHN3_ENST00000514996.1_Splice_Site_p.G527S|LPHN3_ENST00000511324.1_Splice_Site_p.G595S|LPHN3_ENST00000514157.1_Splice_Site_p.G527S|LPHN3_ENST00000509896.1_Splice_Site_p.G595S|LPHN3_ENST00000504896.1_Splice_Site_p.G527S|LPHN3_ENST00000545650.1_Splice_Site_p.G527S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	527					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGGAACTATAGGTAAGTCTGT	0.453																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1579-1581)GGT>AGT		latrophilin 3 precursor							32.0	31.0	31.0					4																	62758676		1981	4157	6138	SO:0001630	splice_region_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758676G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1579+1G>A	4.37:g.62758676G>A						LPHN3_uc003hcq.3_Missense_Mutation_p.G527S|LPHN3_uc003hcs.1_Missense_Mutation_p.G356S	p.G527S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			7	1752	+			527			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1579G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420424	0.62622	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	.	0.053664	0.85682	D	0.000000	T	0.70474	0.3228	M	0.76574	2.34	0.58432	D	0.99999	B;B	0.25609	0.006;0.13	B;B	0.27076	0.023;0.076	T	0.70107	-0.4963	10	0.87932	D	0	.	18.4569	0.90724	0.0:0.0:1.0:0.0	.	527;527	E9PE04;Q9HAR2-2	.;.	S	527;527;595;595;527;527;527;527;527;595;595;595;527;527;527;595;595;527	ENSP00000423388:G527S;ENSP00000422533:G527S;ENSP00000423787:G595S;ENSP00000425033:G595S;ENSP00000424120:G527S;ENSP00000439831:G527S;ENSP00000421476:G595S;ENSP00000424030:G595S;ENSP00000421372:G595S;ENSP00000425201:G527S;ENSP00000423434:G527S;ENSP00000421627:G527S;ENSP00000420931:G595S;ENSP00000425884:G595S;ENSP00000424258:G527S	ENSP00000280009:G527S	G	+	1	0	LPHN3	62441271	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	8.048000	0.89442	2.704000	0.92352	0.563000	0.77884	GGT		0.453	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			Missense_Mutation	2	5	0	0	0	0.004672	0	2	5		
ALB	213	broad.mit.edu	37	4	74279157	74279157	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:74279157C>T	ENST00000503124.1	+	6	621	c.414C>T	c.(412-414)atC>atT	p.I138I	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.I96I|ALB_ENST00000295897.4_Silent_p.I288I|ALB_ENST00000509063.1_Silent_p.I288I|ALB_ENST00000401494.3_Silent_p.I173I			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGTATATCTGTGAAAATC	0.403																																						uc003hgs.3		NaN																	0				ovary(3)|skin(3)	6						c.(862-864)ATC>ATT		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						84.0	82.0	83.0					4																	74279157		2203	4300	6503	SO:0001819	synonymous_variant	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279157C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.414C>T	4.37:g.74279157C>T						ALB_uc003hgw.3_Silent_p.I96I|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.I288I|ALB_uc010iii.2_Silent_p.I173I|ALB_uc003hgu.3_Silent_p.I138I|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.I178I|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	p.I288I	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	937	+	Breast(15;0.00102)		288			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37	c.864C>T																																																																																					0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1		NM_000477		31	44	0	0	0	0.00623	0	31	44		
SEPT11	55752	broad.mit.edu	37	4	77917662	77917662	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:77917662C>G	ENST00000264893.6	+	2	313	c.112C>G	c.(112-114)Caa>Gaa	p.Q38E	SEPT11_ENST00000502584.1_Missense_Mutation_p.Q38E|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.Q48E|SEPT11_ENST00000510515.1_Missense_Mutation_p.Q48E|SEPT11_ENST00000505788.1_Missense_Mutation_p.Q38E	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	38	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTCTACTTCTCAAGGATTCTG	0.438																																						uc003hkj.2		NaN																	0					0						c.(112-114)CAA>GAA		septin 11							144.0	128.0	134.0					4																	77917662		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77917662C>G	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.112C>G	4.37:g.77917662C>G	ENSP00000264893:p.Gln38Glu					SEPT11_uc010ijh.1_Missense_Mutation_p.Q30E|SEPT11_uc011cca.1_Missense_Mutation_p.Q48E	p.Q38E	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN			2	274	+			38					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.112C>G	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726596	0.69074	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000007	T	0.58481	0.2125	M	0.79258	2.445	0.80722	D	1	P;P	0.41102	0.692;0.738	B;B	0.42959	0.281;0.403	T	0.64360	-0.6426	10	0.72032	D	0.01	.	19.7148	0.96113	0.0:1.0:0.0:0.0	.	48;38	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	E	38;38;30;38;48;48;48;48	ENSP00000264893:Q38E;ENSP00000426344:Q38E;ENSP00000420839:Q30E;ENSP00000424925:Q38E;ENSP00000422896:Q48E;ENSP00000425262:Q48E;ENSP00000422047:Q48E;ENSP00000443701:Q48E	ENSP00000264893:Q38E	Q	+	1	0	SEPT11	78136686	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.487000	0.81328	2.668000	0.90789	0.585000	0.79938	CAA		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243		10	60	0	0	0	0.004007	0	10	60		
HNRNPDL	9987	broad.mit.edu	37	4	83350483	83350483	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:83350483C>G	ENST00000295470.5	-	1	536	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	HNRNPDL_ENST00000349655.4_Missense_Mutation_p.E2Q|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.E121Q|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.E2Q|ENOPH1_ENST00000509635.1_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	121					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TTCATATCCTCCATAGTGACG	0.587																																						uc003hmr.2		NaN																	0				skin(1)	1						c.(361-363)GAG>CAG		heterogeneous nuclear ribonucleoprotein D-like							91.0	102.0	99.0					4																	83350483		2203	4300	6503	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350483C>G	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.361G>C	4.37:g.83350483C>G	ENSP00000295470:p.Glu121Gln					ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E121Q	p.E121Q	NM_031372	NP_112740	O14979	HNRDL_HUMAN			1	896	-		Hepatocellular(203;0.114)	121					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.361G>C	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.739669	0.49045	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.67698	-0.28;-0.28;-0.14	4.9	4.9	0.64082	.	0.000000	0.41938	D	0.000789	T	0.68165	0.2971	L	0.48642	1.525	0.41145	D	0.985984	P;B	0.48694	0.914;0.389	P;B	0.50192	0.634;0.073	T	0.66728	-0.5850	10	0.33141	T	0.24	.	16.0122	0.80411	0.0:1.0:0.0:0.0	.	2;121	O14979-3;O14979	.;HNRDL_HUMAN	Q	121;121;2	ENSP00000295470:E121Q;ENSP00000422040:E121Q;ENSP00000338552:E2Q	ENSP00000295470:E121Q	E	-	1	0	HNRPDL	83569507	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.528000	0.45624	2.555000	0.86185	0.484000	0.47621	GAG		0.587	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1		NM_005463		67	63	0	0	0	0.01441	0	67	63		
AFF1	4299	broad.mit.edu	37	4	87967934	87967934	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:87967934C>T	ENST00000307808.6	+	3	646	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.H83Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	76					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TACTAAGTCTCACACTCATCG	0.438																																						uc003hqj.3		NaN																	0				breast(1)	1						c.(226-228)CAC>TAC		myeloid/lymphoid or mixed-lineage leukemia							199.0	202.0	201.0					4																	87967934		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967934C>T	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.226C>T	4.37:g.87967934C>T	ENSP00000305689:p.His76Tyr					AFF1_uc011ccx.1_Missense_Mutation_p.H17Y|AFF1_uc003hqh.1_Missense_Mutation_p.H83Y|AFF1_uc011ccy.1_Missense_Mutation_p.H83Y|AFF1_uc011ccz.1_Missense_Mutation_p.H83Y|AFF1_uc003hqk.3_Missense_Mutation_p.H76Y|AFF1_uc011cda.1_Intron	p.H76Y	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	633	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	76					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.226C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466326	0.04476	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000511442;ENST00000307808	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.5	2.8	0.32819	.	0.465366	0.23077	N	0.052196	T	0.51534	0.1680	M	0.71581	2.175	0.09310	N	1	B;B;B;B;B;B	0.31769	0.339;0.001;0.023;0.145;0.09;0.339	B;B;B;B;B;B	0.36289	0.221;0.004;0.012;0.103;0.103;0.221	T	0.44817	-0.9303	10	0.02654	T	1	-5.0444	3.1862	0.06602	0.1221:0.5593:0.1184:0.2003	.	83;83;17;76;76;83	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	Y	83;83;83;83;17;76	ENSP00000378578:H83Y;ENSP00000427593:H83Y;ENSP00000424483:H83Y;ENSP00000425755:H17Y;ENSP00000305689:H76Y	ENSP00000305689:H76Y	H	+	1	0	AFF1	88186958	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.288000	0.18939	0.357000	0.24183	-0.150000	0.13652	CAC		0.438	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		70	275	0	0	0	0.01441	0	70	275		
AFF1	4299	broad.mit.edu	37	4	88036278	88036278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:88036278C>T	ENST00000307808.6	+	11	2692	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S	AFF1_ENST00000544085.1_Missense_Mutation_p.P396S|AFF1_ENST00000395146.4_Missense_Mutation_p.P765S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	758					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CACTCCTCCCCCACAAAGCTT	0.597																																						uc003hqj.3		NaN																	0				breast(1)	1						c.(2272-2274)CCA>TCA		myeloid/lymphoid or mixed-lineage leukemia							77.0	70.0	73.0					4																	88036278		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88036278C>T	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.2272C>T	4.37:g.88036278C>T	ENSP00000305689:p.Pro758Ser					AFF1_uc011ccz.1_Missense_Mutation_p.P765S|AFF1_uc003hqk.3_Missense_Mutation_p.P758S|AFF1_uc011cda.1_Missense_Mutation_p.P396S	p.P758S	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2679	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	758					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2272C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	4.729	0.135555	0.09032	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63096	-0.02;-0.02;-0.02	5.93	5.93	0.95920	.	0.486110	0.21835	N	0.068415	T	0.62048	0.2396	L	0.56769	1.78	0.09310	N	1	P;P;P	0.43885	0.82;0.82;0.82	P;P;P	0.45276	0.475;0.475;0.475	T	0.57510	-0.7799	10	0.09590	T	0.72	-3.8589	16.6027	0.84820	0.1306:0.8694:0.0:0.0	.	765;758;758	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	765;417;758;396	ENSP00000378578:P765S;ENSP00000305689:P758S;ENSP00000440843:P396S	ENSP00000305689:P758S	P	+	1	0	AFF1	88255302	0.000000	0.05858	0.013000	0.15412	0.103000	0.19146	0.958000	0.29227	2.818000	0.97014	0.591000	0.81541	CCA		0.597	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		50	90	0	0	0	0.01441	0	50	90		
GLRB	2743	broad.mit.edu	37	4	158091590	158091590	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr4:158091590G>A	ENST00000264428.4	+	10	1474	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	GLRB_ENST00000509282.1_Missense_Mutation_p.E402K|GLRB_ENST00000512619.1_Silent_p.V43V|GLRB_ENST00000541722.1_Silent_p.*304*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	402					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTAGGTTGGTGAGACCAGATG	0.308																																						uc003ipj.2		NaN																	0				skin(2)	2						c.(1204-1206)GAG>AAG		glycine receptor, beta isoform A precursor	Glycine(DB00145)						56.0	59.0	58.0					4																	158091590		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158091590G>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1204G>A	4.37:g.158091590G>A	ENSP00000264428:p.Glu402Lys						p.E402K	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	10	1406	+	all_hematologic(180;0.24)	Renal(120;0.0458)	402			Cytoplasmic (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.1204G>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747522	0.89663	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.85171	-1.95;-1.95	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.097622	0.64402	D	0.000001	D	0.86426	0.5930	.	.	.	0.80722	D	1	P	0.52170	0.951	P	0.47044	0.535	D	0.84301	0.0505	9	0.34782	T	0.22	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	402	P48167	GLRB_HUMAN	K	402	ENSP00000264428:E402K;ENSP00000427186:E402K	ENSP00000264428:E402K	E	+	1	0	GLRB	158311040	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GAG		0.308	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1		NM_000824		17	7	0	0	0	0.012319	0	17	7		
ICE1	23379	broad.mit.edu	37	5	5465303	5465303	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:5465303G>C	ENST00000296564.7	+	13	6078	c.5856G>C	c.(5854-5856)gaG>gaC	p.E1952D		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1952					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGATCAAGAGAAGGAAGTTG	0.368																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5854-5856)GAG>GAC		hypothetical protein LOC23379							63.0	55.0	58.0					5																	5465303		1856	4100	5956	SO:0001583	missense	23379							g.chr5:5465303G>C																												ENST00000296564.7:c.5856G>C	5.37:g.5465303G>C	ENSP00000296564:p.Glu1952Asp						p.E1952D	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	6078	+			1952					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.5856G>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642886	0.67244	.	.	ENSG00000164151	ENST00000296564	T	0.34072	1.38	5.76	3.06	0.35304	.	.	.	.	.	T	0.51312	0.1667	L	0.59436	1.845	0.40382	D	0.979459	D	0.89917	1.0	D	0.83275	0.996	T	0.49744	-0.8907	9	0.87932	D	0	-14.1794	7.8515	0.29457	0.3175:0.0:0.6825:0.0	.	1952	Q9Y2F5	K0947_HUMAN	D	1952	ENSP00000296564:E1952D	ENSP00000296564:E1952D	E	+	3	2	KIAA0947	5518303	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.737000	0.47393	0.382000	0.24878	-0.469000	0.05056	GAG		0.368	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				2	6	0	0	0	0.004672	0	2	6		
PRDM9	56979	broad.mit.edu	37	5	23527167	23527167	+	Missense_Mutation	SNP	G	G	C	rs112679149	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:23527167G>C	ENST00000296682.3	+	11	2152	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	657					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.607										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1969-1971)AGA>ACA		PR domain containing 9							15.0	15.0	15.0					5																	23527167		1363	3077	4440	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527167G>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1970G>C	5.37:g.23527167G>C	ENSP00000296682:p.Arg657Thr	HNSCC(3;0.000094)					p.R657T	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2152	+			657			C2H2-type 6.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1970G>C	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.137268	0.00335	.	.	ENSG00000164256	ENST00000296682	T	0.15603	2.41	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37623	N	0.002013	T	0.04907	0.0132	N	0.04063	-0.285	0.18873	N	0.999986	B	0.02656	0.0	B	0.06405	0.002	T	0.40757	-0.9546	10	0.02654	T	1	-0.7289	3.6224	0.08100	0.0:0.5769:0.2673:0.1558	.	657	Q9NQV7	PRDM9_HUMAN	T	657	ENSP00000296682:R657T	ENSP00000296682:R657T	R	+	2	0	PRDM9	23562924	0.000000	0.05858	1.000000	0.80357	0.511000	0.34104	-2.003000	0.01463	0.507000	0.28148	-0.371000	0.07208	AGA		0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		3	109	0	0	0	0.000602	0	3	109		
C5orf42	65250	broad.mit.edu	37	5	37115115	37115115	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:37115115C>A	ENST00000508244.1	-	49	9278	c.9185G>T	c.(9184-9186)gGa>gTa	p.G3062V	C5orf42_ENST00000274258.7_Missense_Mutation_p.G1960V|C5orf42_ENST00000425232.2_Missense_Mutation_p.G3062V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3062			G -> R (in dbSNP:rs7702892).			integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTTTGGCTCCACCAGCTTT	0.363																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(9184-9186)GGA>GTA		hypothetical protein LOC65250							100.0	90.0	93.0					5																	37115115		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37115115C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9185G>T	5.37:g.37115115C>A	ENSP00000421690:p.Gly3062Val					C5orf42_uc003jko.1_Missense_Mutation_p.G93V|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.G1580V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.G2155V	p.G3062V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		50	9416	-	all_lung(31;0.000616)		3062					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.9185G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773088	0.49680	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.22743	1.95;1.95;1.94;1.94	3.78	0.783	0.18572	.	1.267940	0.05991	U	0.646004	T	0.16514	0.0397	L	0.34521	1.04	0.09310	N	0.999999	B;B	0.32160	0.358;0.358	B;B	0.34873	0.191;0.158	T	0.34625	-0.9821	10	0.32370	T	0.25	.	5.2009	0.15264	0.0:0.4527:0.426:0.1214	.	3062;1960	E9PH94;Q9H799	.;CE042_HUMAN	V	3062;3062;1960;2128	ENSP00000421690:G3062V;ENSP00000389014:G3062V;ENSP00000274258:G1960V;ENSP00000424223:G2128V	ENSP00000274258:G1960V	G	-	2	0	C5orf42	37150872	0.000000	0.05858	0.026000	0.17262	0.839000	0.47603	-0.176000	0.09811	0.302000	0.22762	0.655000	0.94253	GGA		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		19	14	1	0	1.55795e-14	0.012319	1.67012e-14	19	14		
MRPS30	10884	broad.mit.edu	37	5	44809390	44809390	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:44809390T>A	ENST00000507110.1	+	1	364	c.326T>A	c.(325-327)tTc>tAc	p.F109Y	RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	109					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TACCAGTACTTCACCAAGACC	0.622																																						uc003joh.2		NaN																	0					0						c.(325-327)TTC>TAC		mitochondrial ribosomal protein S30							27.0	28.0	28.0					5																	44809390		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809390T>A	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.326T>A	5.37:g.44809390T>A	ENSP00000424328:p.Phe109Tyr					MRPS30_uc003joi.1_5'Flank	p.F109Y	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	364	+	Lung NSC(6;8.08e-07)		109					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.326T>A	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754419	0.89843	.	.	ENSG00000112996	ENST00000507110	T	0.18016	2.24	5.25	5.25	0.73442	.	0.046217	0.85682	D	0.000000	T	0.35970	0.0950	M	0.62016	1.91	0.58432	D	0.999995	D	0.52996	0.957	D	0.64410	0.925	T	0.03025	-1.1081	10	0.21540	T	0.41	-0.0827	15.6084	0.76692	0.0:0.0:0.0:1.0	.	109	Q9NP92	RT30_HUMAN	Y	109	ENSP00000424328:F109Y	ENSP00000424328:F109Y	F	+	2	0	MRPS30	44845147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.752000	0.68728	2.326000	0.78906	0.533000	0.62120	TTC		0.622	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2		NM_016640		21	25	0	0	0	0.00632	0	21	25		
MSH3	4437	broad.mit.edu	37	5	79965995	79965995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:79965995C>A	ENST00000265081.6	+	4	739	c.659C>A	c.(658-660)tCa>tAa	p.S220*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	220	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTTCCAAATCAGCTAACAAA	0.378								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(658-660)TCA>TAA	MMR	mutS homolog 3							101.0	97.0	98.0					5																	79965995		2203	4300	6503	SO:0001587	stop_gained	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79965995C>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.659C>A	5.37:g.79965995C>A	ENSP00000265081:p.Ser220*						p.S220*	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	4	912	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	220			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Nonsense_Mutation	SNP	ENST00000265081.6	37	c.659C>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952308	0.92660	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	.	.	.	5.35	3.56	0.40772	.	0.530275	0.19260	N	0.118713	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.274	5.7323	0.18047	0.1576:0.6754:0.0:0.167	.	.	.	.	X	220;211	.	.	S	+	2	0	MSH3	80001751	0.000000	0.05858	0.062000	0.19696	0.147000	0.21601	0.720000	0.25896	1.260000	0.44134	0.655000	0.94253	TCA		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		13	13	1	0	0.00010058	0.013537	0.000102687	13	13		
GPR98	84059	broad.mit.edu	37	5	90124866	90124866	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90124866G>A	ENST00000405460.2	+	77	16570	c.16474G>A	c.(16474-16476)Gat>Aat	p.D5492N	GPR98_ENST00000425867.2_Missense_Mutation_p.D1153N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5492					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTAGAAAGTGATGAATCTCA	0.433																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16474-16476)GAT>AAT		G protein-coupled receptor 98 precursor							155.0	151.0	152.0					5																	90124866		1856	4098	5954	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90124866G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16474G>A	5.37:g.90124866G>A	ENSP00000384582:p.Asp5492Asn					GPR98_uc003kjt.2_Missense_Mutation_p.D3198N|GPR98_uc003kjw.2_Missense_Mutation_p.D1153N	p.D5492N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	77	16570	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5492			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16474G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038164	0.19669	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.46819	0.86;0.86	5.71	2.94	0.34122	.	0.240308	0.47852	N	0.000217	T	0.47563	0.1452	M	0.74258	2.255	0.19575	N	0.999969	B;B;B	0.23591	0.053;0.009;0.088	B;B;B	0.31337	0.06;0.006;0.128	T	0.41466	-0.9507	9	.	.	.	.	9.0972	0.36647	0.1331:0.1215:0.7454:0.0	.	1153;5492;1153	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	5492;5492;1153	ENSP00000384582:D5492N;ENSP00000392618:D1153N	.	D	+	1	0	GPR98	90160622	0.988000	0.35896	0.000000	0.03702	0.005000	0.04900	4.037000	0.57311	0.329000	0.23460	0.655000	0.94253	GAT		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		35	34	0	0	0	0.00874	0	35	34		
GPR98	84059	broad.mit.edu	37	5	90124959	90124959	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90124959G>T	ENST00000405460.2	+	77	16663	c.16567G>T	c.(16567-16569)Gat>Tat	p.D5523Y	GPR98_ENST00000425867.2_Missense_Mutation_p.D1184Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5523					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGGCCAGAGATTCTGGGAC	0.418																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16567-16569)GAT>TAT		G protein-coupled receptor 98 precursor							172.0	170.0	171.0					5																	90124959		1891	4113	6004	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90124959G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16567G>T	5.37:g.90124959G>T	ENSP00000384582:p.Asp5523Tyr					GPR98_uc003kjt.2_Missense_Mutation_p.D3229Y|GPR98_uc003kjw.2_Missense_Mutation_p.D1184Y	p.D5523Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	77	16663	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5523			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16567G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983048	0.74474	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28454	1.61;1.61	5.81	4.91	0.64330	.	0.310848	0.36854	N	0.002380	T	0.36799	0.0980	M	0.65975	2.015	0.51482	D	0.999927	P;P;P	0.50272	0.546;0.933;0.675	B;B;B	0.42882	0.146;0.401;0.281	T	0.26052	-1.0114	9	.	.	.	.	16.5544	0.84482	0.0:0.1307:0.8693:0.0	.	1184;5523;1184	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Y	5523;5523;1184	ENSP00000384582:D5523Y;ENSP00000392618:D1184Y	.	D	+	1	0	GPR98	90160715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.861000	0.62969	1.384000	0.46424	0.655000	0.94253	GAT		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		75	53	1	0	5.10314e-47	0.01441	5.65142e-47	75	53		
ARRDC3	57561	broad.mit.edu	37	5	90678672	90678672	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:90678672C>G	ENST00000265138.3	-	1	504	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	80					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTGAAATACTCTACTTCTTCA	0.378																																						uc003kjz.2		NaN																	0				ovary(1)|breast(1)	2						c.(238-240)GAG>CAG		arrestin domain containing 3							120.0	125.0	123.0					5																	90678672		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90678672C>G	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.238G>C	5.37:g.90678672C>G	ENSP00000265138:p.Glu80Gln					LOC100129716_uc003kka.3_Intron	p.E80Q	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	1	478	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	80					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.238G>C	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104679	0.77096	.	.	ENSG00000113369	ENST00000265138	T	0.14640	2.49	5.16	5.16	0.70880	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.048076	0.85682	D	0.000000	T	0.33147	0.0853	M	0.67569	2.06	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.01767	-1.1278	10	0.33141	T	0.24	-17.3326	18.6281	0.91349	0.0:1.0:0.0:0.0	.	80	Q96B67	ARRD3_HUMAN	Q	80	ENSP00000265138:E80Q	ENSP00000265138:E80Q	E	-	1	0	ARRDC3	90714428	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.707000	0.84623	2.393000	0.81446	0.561000	0.74099	GAG		0.378	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2		NM_020801		44	40	0	0	0	0.01441	0	44	40		
SHROOM1	134549	broad.mit.edu	37	5	132160501	132160501	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:132160501C>G	ENST00000378679.3	-	6	1851	c.1047G>C	c.(1045-1047)caG>caC	p.Q349H	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Missense_Mutation_p.Q349H	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	349					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCTCTTTCTGAGGCAAGA	0.542																																						uc003kxx.2		NaN																	0				pancreas(1)	1						c.(1045-1047)CAG>CAC		shroom family member 1							48.0	51.0	50.0					5																	132160501		2202	4300	6502	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132160501C>G	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.1047G>C	5.37:g.132160501C>G	ENSP00000367950:p.Gln349His					SHROOM1_uc003kxy.1_Missense_Mutation_p.Q349H	p.Q349H	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1852	-			349					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.1047G>C	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103268	0.37145	.	.	ENSG00000164403	ENST00000378679;ENST00000319854	T;T	0.26373	1.74;1.74	3.71	2.82	0.32997	.	1.179440	0.05910	N	0.631518	T	0.21267	0.0512	L	0.27053	0.805	0.50313	D	0.999865	B;B	0.21452	0.056;0.033	B;B	0.23150	0.044;0.02	T	0.05257	-1.0896	10	0.52906	T	0.07	-2.3316	9.2134	0.37333	0.0:0.7785:0.2215:0.0	.	349;349	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	H	349	ENSP00000367950:Q349H;ENSP00000324245:Q349H	ENSP00000324245:Q349H	Q	-	3	2	SHROOM1	132188400	0.052000	0.20516	0.623000	0.29173	0.181000	0.23173	0.899000	0.28417	1.108000	0.41662	0.561000	0.74099	CAG		0.542	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		NM_133456		4	22	0	0	0	0.000602	0	4	22		
SEC24A	10802	broad.mit.edu	37	5	134044472	134044472	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:134044472C>G	ENST00000398844.2	+	18	2909	c.2621C>G	c.(2620-2622)tCc>tGc	p.S874C		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	874					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCATTGACTCCCTTTCAGCT	0.468																																						uc003kzs.2		NaN																	0					0						c.(2620-2622)TCC>TGC		SEC24 related gene family, member A							204.0	187.0	193.0					5																	134044472		1934	4148	6082	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134044472C>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2621C>G	5.37:g.134044472C>G	ENSP00000381823:p.Ser874Cys					SEC24A_uc011cxu.1_Missense_Mutation_p.S638C	p.S874C	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2909	+			874					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2621C>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622092	0.46840	.	.	ENSG00000113615	ENST00000398844	D	0.89485	-2.52	5.62	4.75	0.60458	Sec23/Sec24, helical domain (2);	0.372557	0.32093	N	0.006600	D	0.85809	0.5783	L	0.46157	1.445	0.80722	D	1	B;B	0.21821	0.034;0.061	B;B	0.21546	0.035;0.024	D	0.83552	0.0102	10	0.59425	D	0.04	-18.5418	14.8117	0.70000	0.0:0.9298:0.0:0.0702	.	638;874	B4E205;O95486	.;SC24A_HUMAN	C	874	ENSP00000381823:S874C	ENSP00000381823:S874C	S	+	2	0	SEC24A	134072371	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	4.837000	0.62796	2.646000	0.89796	0.467000	0.42956	TCC		0.468	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				33	46	0	0	0	0.004878	0	33	46		
ETF1	2107	broad.mit.edu	37	5	137846256	137846256	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:137846256C>G	ENST00000360541.5	-	9	1302	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	ETF1_ENST00000503014.1_Missense_Mutation_p.E347Q|ETF1_ENST00000499810.2_Missense_Mutation_p.E328Q	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	361					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.E361Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCACATACCTCTTTGTCTGTG	0.398																																						uc003ldc.3		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(1081-1083)GAG>CAG		eukaryotic translation termination factor 1							144.0	131.0	135.0					5																	137846256		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137846256C>G	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1081G>C	5.37:g.137846256C>G	ENSP00000353741:p.Glu361Gln					ETF1_uc011cyv.1_Missense_Mutation_p.E347Q|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.E328Q	p.E361Q	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1246	-			361					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.1081G>C	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590096	0.66105	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.93	5.06	0.68205	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.90019	3.08	0.80722	D	1	B;B	0.31054	0.112;0.306	B;B	0.43701	0.428;0.324	T	0.81302	-0.0994	9	0.49607	T	0.09	-8.1678	16.7575	0.85503	0.0:0.8706:0.1294:0.0	.	347;361	B7Z7P8;P62495	.;ERF1_HUMAN	Q	328;361;347	.	ENSP00000353741:E361Q	E	-	1	0	ETF1	137874155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	1.480000	0.48289	0.655000	0.94253	GAG		0.398	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2		NM_004730		6	40	0	0	0	0.004482	0	6	40		
CTNNA1	1495	broad.mit.edu	37	5	138269620	138269620	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:138269620C>G	ENST00000302763.7	+	18	2653	c.2563C>G	c.(2563-2565)Cct>Gct	p.P855A	CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.P752A|CTNNA1_ENST00000540387.1_Missense_Mutation_p.P485A	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	855					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCAACCTTCCTGCTGTGTC	0.478																																						uc003ldh.2		NaN																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(2563-2565)CCT>GCT		catenin, alpha 1							92.0	77.0	82.0					5																	138269620		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138269620C>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2563C>G	5.37:g.138269620C>G	ENSP00000304669:p.Pro855Ala					CTNNA1_uc011cyx.1_Missense_Mutation_p.P752A|CTNNA1_uc011cyy.1_Missense_Mutation_p.P732A|CTNNA1_uc003ldi.2_Missense_Mutation_p.P553A|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.P485A	p.P855A	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		18	2658	+			855					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.2563C>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657713	0.67586	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000540387;ENST00000520520	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.69185	2.1	0.80722	D	1	P;D	0.63880	0.952;0.993	P;D	0.63283	0.792;0.913	T	0.55496	-0.8132	10	0.41790	T	0.15	-11.2801	17.8314	0.88684	0.0:1.0:0.0:0.0	.	732;855	B4DKT9;P35221	.;CTNA1_HUMAN	A	752;855;878;840;485;85	ENSP00000347190:P752A;ENSP00000304669:P855A;ENSP00000438476:P485A;ENSP00000430076:P85A	ENSP00000304669:P855A	P	+	1	0	CTNNA1	138297519	1.000000	0.71417	0.970000	0.41538	0.343000	0.28985	7.604000	0.82830	2.523000	0.85059	0.655000	0.94253	CCT		0.478	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1		NM_001903		3	39	0	0	0	0.000602	0	3	39		
SH3RF2	153769	broad.mit.edu	37	5	145317639	145317639	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:145317639C>T	ENST00000511217.1	+	1	200	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P50S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	50					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCGGTGCCCCGAATGCAG	0.592																																						uc003lnt.2		NaN																	0				ovary(1)|skin(1)	2						c.(148-150)CCC>TCC		SH3 domain containing ring finger 2							72.0	70.0	71.0					5																	145317639		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145317639C>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.148C>T	5.37:g.145317639C>T	ENSP00000424497:p.Pro50Ser					SH3RF2_uc011dbl.1_Missense_Mutation_p.P50S	p.P50S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	386	+			50			RING-type.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.148C>T	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482185	0.96307	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	D;D	0.94576	-3.46;-3.46	6.07	6.07	0.98685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98385	1.0560	10	0.87932	D	0	-26.7441	20.6439	0.99570	0.0:1.0:0.0:0.0	.	50	Q8TEC5	SH3R2_HUMAN	S	50	ENSP00000352028:P50S;ENSP00000424497:P50S	ENSP00000352028:P50S	P	+	1	0	SH3RF2	145297832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CCC		0.592	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1		NM_152550		4	37	0	0	0	0.009096	0	4	37		
TLX3	30012	broad.mit.edu	37	5	170736430	170736430	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:170736430G>T	ENST00000296921.5	+	1	143	c.61G>T	c.(61-63)Gac>Tac	p.D21Y		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	21					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCGGCATCGACCAGATCCT	0.781			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2		NaN		Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(61-63)GAC>TAC		T-cell leukemia homeobox 3							13.0	16.0	15.0					5																	170736430		2188	4273	6461	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170736430G>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.61G>T	5.37:g.170736430G>T	ENSP00000296921:p.Asp21Tyr					uc003mbe.1_5'Flank	p.D21Y	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	143	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	21					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.61G>T	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151820	0.78001	.	.	ENSG00000164438	ENST00000296921	D	0.94537	-3.45	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.74647	2.275	0.52501	D	0.999957	D	0.89917	1.0	D	0.79784	0.993	D	0.97475	1.0043	10	0.87932	D	0	.	15.9674	0.79985	0.0:0.0:1.0:0.0	.	21	O43711	TLX3_HUMAN	Y	21	ENSP00000296921:D21Y	ENSP00000296921:D21Y	D	+	1	0	TLX3	170669035	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.546000	0.82137	2.284000	0.76573	0.455000	0.32223	GAC		0.781	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3				6	9	1	0	5.18039e-06	0.00308	5.35008e-06	6	9		
BTNL8	79908	broad.mit.edu	37	5	180338519	180338519	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr5:180338519T>G	ENST00000340184.4	+	3	784	c.578T>G	c.(577-579)aTc>aGc	p.I193S	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.I193S|BTNL8_ENST00000508408.1_Missense_Mutation_p.I193S|BTNL8_ENST00000533815.2_Missense_Mutation_p.I9S|BTNL8_ENST00000505126.1_De_novo_Start_InFrame|BTNL8_ENST00000400707.3_Missense_Mutation_p.I68S|BTNL8_ENST00000511704.1_Missense_Mutation_p.I77S	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	193	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGTGGAGATCTCTCTGACC	0.552																																						uc003mmp.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(577-579)ATC>AGC		butyrophilin-like 8 isoform 2 precursor							95.0	94.0	94.0					5																	180338519		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338519T>G	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.578T>G	5.37:g.180338519T>G	ENSP00000342197:p.Ile193Ser					BTNL8_uc003mmq.2_Missense_Mutation_p.I193S|BTNL8_uc011dhg.1_Missense_Mutation_p.I68S|BTNL8_uc010jll.2_Missense_Mutation_p.I193S|BTNL8_uc010jlm.2_Missense_Mutation_p.I77S|BTNL8_uc011dhh.1_Missense_Mutation_p.I9S	p.I193S	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	812	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	193			Ig-like V-type 2.|Extracellular (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.578T>G	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.007980	0.19199	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000533815	T;T;T;T;T;T	0.58210	3.87;3.87;3.87;3.87;3.87;0.35	3.69	2.81	0.32909	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22513	0.0543	N	0.02225	-0.63	0.09310	N	1	B;B;B;B;B	0.26672	0.02;0.012;0.085;0.156;0.049	B;B;B;B;B	0.19666	0.018;0.018;0.026;0.026;0.026	T	0.18461	-1.0336	9	0.17369	T	0.5	.	6.9706	0.24646	0.0:0.8631:0.0:0.1369	.	68;77;193;193;193	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	S	193;193;68;193;77;9	ENSP00000231229:I193S;ENSP00000342197:I193S;ENSP00000383543:I68S;ENSP00000424585:I193S;ENSP00000425207:I77S;ENSP00000435098:I9S	ENSP00000231229:I193S	I	+	2	0	BTNL8	180271125	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.815000	0.04481	0.687000	0.31509	0.172000	0.16884	ATC		0.552	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1		NM_024850		31	36	0	0	0	0.004878	0	31	36		
DUSP22	56940	broad.mit.edu	37	6	348771	348771	+	Silent	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:348771T>C	ENST00000344450.5	+	7	881	c.438T>C	c.(436-438)taT>taC	p.Y146Y	DUSP22_ENST00000419235.2_Silent_p.Y146Y|DUSP22_ENST00000603453.1_Silent_p.Y43Y|DUSP22_ENST00000605315.1_Silent_p.Y43Y|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000604971.1_Silent_p.Y43Y	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	146					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTCTCCAGTATCGGCAGTGGC	0.517																																						uc003msx.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(436-438)TAT>TAC		dual specificity phosphatase 22							167.0	150.0	156.0					6																	348771		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348771T>C	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.438T>C	6.37:g.348771T>C						DUSP22_uc011dhn.1_Silent_p.Y146Y|DUSP22_uc003msy.1_Silent_p.Y103Y	p.Y146Y	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	7	877	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	146					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.438T>C	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	T	7.100	0.573926	0.13623	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.07	-1.8	0.07907	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59941	-0.7359	4	.	.	.	.	15.4977	0.75669	0.0:0.7797:0.0:0.2203	.	.	.	.	P	84	.	.	S	+	1	0	DUSP22	293771	1.000000	0.71417	0.975000	0.42487	0.457000	0.32468	1.281000	0.33214	-0.463000	0.06973	-0.912000	0.02778	TCG		0.517	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1		NM_020185		5	107	0	0	0	0.001984	0	5	107		
CDYL	9425	broad.mit.edu	37	6	4943831	4943831	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:4943831C>T	ENST00000328908.5	+	7	1466	c.1335C>T	c.(1333-1335)gtC>gtT	p.V445V	CDYL_ENST00000449732.2_Silent_p.V259V|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.V391V|CDYL_ENST00000343762.5_Silent_p.V259V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	445					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTGTAGCAGTCAATGGCCCAG	0.383																																						uc003mwi.2		NaN																	0					0						c.(1333-1335)GTC>GTT		chromodomain protein, Y chromosome-like isoform							113.0	113.0	113.0					6																	4943831		2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4943831C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1335C>T	6.37:g.4943831C>T						CDYL_uc003mwj.2_Silent_p.V391V|CDYL_uc003mwk.2_Silent_p.V156V|CDYL_uc011dhx.1_Silent_p.V259V|CDYL_uc011dhy.1_Silent_p.V259V	p.V445V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	7	1466	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	445					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.1335C>T																																																																																					0.383	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824		6	83	0	0	0	0.00308	0	6	83		
F13A1	2162	broad.mit.edu	37	6	6224981	6224981	+	Missense_Mutation	SNP	C	C	T	rs139164988		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:6224981C>T	ENST00000264870.3	-	7	1176	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	304					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTCAGAGCTCCGGTATTCCAA	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0					uc003mwv.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(910-912)CGG>CAG		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	97.0	103.0	101.0		911	-2.8	0.0	6	dbSNP_134	101	0,8600		0,0,4300	no	missense	F13A1	NM_000129.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	304/733	6224981	1,13005	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6224981C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.911G>A	6.37:g.6224981C>T	ENSP00000264870:p.Arg304Gln					F13A1_uc011dib.1_Missense_Mutation_p.R241Q	p.R304Q	NM_000129	NP_000120	P00488	F13A_HUMAN			7	1034	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	304					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.911G>A	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.895|7.895	0.733206|0.733206	0.15574|0.15574	2.27E-4|2.27E-4	0.0|0.0	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.91011	.|-2.77	5.51|5.51	-2.8|-2.8	0.05823|0.05823	.|.	.|1.077850	.|0.07025	.|N	.|0.827401	T|T	0.57725|0.57725	0.2073|0.2073	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.15141	.|0.01;0.012	.|B;B	.|0.06405	.|0.002;0.002	T|T	0.50575|0.50575	-0.8812|-0.8812	5|10	.|0.18276	.|T	.|0.48	.|.	11.124|11.124	0.48306|0.48306	0.0:0.4765:0.0:0.5235|0.0:0.4765:0.0:0.5235	.|.	.|241;304	.|F5H080;P00488	.|.;F13A_HUMAN	R|Q	21|304;241	.|ENSP00000264870:R304Q	.|ENSP00000264870:R304Q	G|R	-|-	1|2	0|0	F13A1|F13A1	6169980|6169980	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.624000|0.624000	0.37722|0.37722	-0.362000|-0.362000	0.07602|0.07602	-0.782000|-0.782000	0.04541|0.04541	-1.264000|-1.264000	0.01445|0.01445	GGA|CGG		0.463	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3		NM_000129		38	73	0	0	0	0.013114	0	38	73		
LY86	9450	broad.mit.edu	37	6	6589066	6589066	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:6589066T>A	ENST00000379953.2	+	2	451	c.99T>A	c.(97-99)tgT>tgA	p.C33*	LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000447858.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.C33*|LY86-AS1_ENST00000429345.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	33					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					ACGTGGTCTGTAGCGACAGCG	0.572																																						uc003mwy.1		NaN																	0					0						c.(97-99)TGT>TGA		MD-1, RP105-associated precursor							89.0	84.0	86.0					6																	6589066		2203	4300	6503	SO:0001587	stop_gained	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6589066T>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.99T>A	6.37:g.6589066T>A	ENSP00000369286:p.Cys33*					LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	p.C33*	NM_004271	NP_004262	O95711	LY86_HUMAN			1	133	+	Ovarian(93;0.0377)		33					Q9UQC4	Nonsense_Mutation	SNP	ENST00000379953.2	37	c.99T>A	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390314	0.82902	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	.	.	.	5.3	4.43	0.53597	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.3419	10.2452	0.43336	0.0:0.9082:0.0:0.0918	.	.	.	.	X	33	.	ENSP00000230568:C33X	C	+	3	2	LY86	6534065	0.998000	0.40836	0.902000	0.35471	0.008000	0.06430	1.970000	0.40520	1.234000	0.43709	-0.374000	0.07098	TGT		0.572	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2				9	62	0	0	0	0.008291	0	9	62		
SYCP2L	221711	broad.mit.edu	37	6	10891745	10891745	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:10891745G>C	ENST00000283141.6	+	2	305		c.e2-1		SYCP2L_ENST00000543878.1_Splice_Site|RP11-637O19.3_ENST00000480294.1_Splice_Site	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like							nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTCCACACAGAAAAACAAAG	0.299																																						uc003mzo.2		NaN																	0				ovary(1)|skin(1)	2						c.e2-1		synaptonemal complex protein 2-like							99.0	96.0	97.0					6																	10891745		1816	4065	5881	SO:0001630	splice_region_variant	221711					nucleus		g.chr6:10891745G>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.10-1G>C	6.37:g.10891745G>C						SYCP2L_uc011dim.1_Splice_Site	p.K4_splice	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		2	306	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)						A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Splice_Site	SNP	ENST00000283141.6	37	c.10_splice	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429964	0.25726	.	.	ENSG00000153157	ENST00000283141	.	.	.	3.48	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6731	0.45770	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP2L	10999731	0.993000	0.37304	0.875000	0.34327	0.060000	0.15804	3.590000	0.53979	1.941000	0.56285	0.561000	0.74099	.		0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299	Intron	5	57	0	0	0	0.004482	0	5	57		
SYCP2L	221711	broad.mit.edu	37	6	10912908	10912908	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:10912908G>A	ENST00000283141.6	+	13	1217	c.921G>A	c.(919-921)atG>atA	p.M307I	SYCP2L_ENST00000543878.1_Missense_Mutation_p.M148I|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	307						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCTTACAGATGAGAAAACCAG	0.343																																						uc003mzo.2		NaN																	0				ovary(1)|skin(1)	2						c.(919-921)ATG>ATA		synaptonemal complex protein 2-like							77.0	70.0	73.0					6																	10912908		1835	4077	5912	SO:0001583	missense	221711					nucleus		g.chr6:10912908G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.921G>A	6.37:g.10912908G>A	ENSP00000283141:p.Met307Ile					SYCP2L_uc011din.1_Missense_Mutation_p.M148I|SYCP2L_uc010jow.2_5'UTR	p.M307I	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		13	1217	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	307					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.921G>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043226	0.55003	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.41400	1.0;2.28	5.42	5.42	0.78866	.	0.219369	0.40469	N	0.001081	T	0.29620	0.0739	M	0.68317	2.08	0.80722	D	1	P;P	0.42941	0.587;0.794	B;B	0.39805	0.104;0.31	T	0.26292	-1.0107	10	0.54805	T	0.06	-3.7092	10.7366	0.46128	0.1208:0.0:0.8792:0.0	.	148;307	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	I	148;307	ENSP00000440676:M148I;ENSP00000283141:M307I	ENSP00000283141:M307I	M	+	3	0	SYCP2L	11020894	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.833000	0.39161	2.540000	0.85666	0.655000	0.94253	ATG		0.343	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299		12	51	0	0	0	0.00245	0	12	51		
OR2B6	26212	broad.mit.edu	37	6	27925119	27925119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925119C>G	ENST00000244623.1	+	1	101	c.101C>G	c.(100-102)tCt>tGt	p.S34C		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCTTGATTTCTTACACTGTG	0.418																																						uc011dkx.1		NaN																	0				skin(1)	1						c.(100-102)TCT>TGT		olfactory receptor, family 2, subfamily B,							179.0	171.0	174.0					6																	27925119		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925119C>G	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.101C>G	6.37:g.27925119C>G	ENSP00000244623:p.Ser34Cys						p.S34C	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	101	+			34			Helical; Name=1; (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.101C>G	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	9.898	1.206139	0.22205	.	.	ENSG00000124657	ENST00000244623	T	0.00438	7.42	3.78	3.78	0.43462	.	0.000000	0.33792	U	0.004547	T	0.00328	0.0010	L	0.31752	0.955	0.25552	N	0.987077	D	0.76494	0.999	D	0.70935	0.971	T	0.60606	-0.7230	10	0.62326	D	0.03	.	13.9168	0.63902	0.0:1.0:0.0:0.0	.	34	P58173	OR2B6_HUMAN	C	34	ENSP00000244623:S34C	ENSP00000244623:S34C	S	+	2	0	OR2B6	28033098	0.000000	0.05858	0.031000	0.17742	0.039000	0.13416	0.371000	0.20450	2.022000	0.59522	0.563000	0.77884	TCT		0.418	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1				21	65	0	0	0	0.012319	0	21	65		
OR2B6	26212	broad.mit.edu	37	6	27925668	27925668	+	Missense_Mutation	SNP	C	C	T	rs200986280		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925668C>T	ENST00000244623.1	+	1	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTTATATCATATGCTTTT	0.423																																						uc011dkx.1		NaN																	0				skin(1)	1						c.(649-651)TCA>TTA		olfactory receptor, family 2, subfamily B,							184.0	183.0	183.0					6																	27925668		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925668C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.650C>T	6.37:g.27925668C>T	ENSP00000244623:p.Ser217Leu						p.S217L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	650	+			217			Helical; Name=5; (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.650C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.812349	0.32053	.	.	ENSG00000124657	ENST00000244623	T	0.39229	1.09	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30185	U	0.010217	T	0.54838	0.1883	H	0.94503	3.545	0.20873	N	0.99984	P	0.48640	0.913	P	0.52189	0.692	T	0.55711	-0.8098	10	0.87932	D	0	.	13.417	0.60974	0.0:1.0:0.0:0.0	.	217	P58173	OR2B6_HUMAN	L	217	ENSP00000244623:S217L	ENSP00000244623:S217L	S	+	2	0	OR2B6	28033647	0.961000	0.32948	0.127000	0.21898	0.004000	0.04260	3.320000	0.51991	1.898000	0.54952	0.467000	0.42956	TCA		0.423	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1				40	169	0	0	0	0.01441	0	40	169		
OR2B6	26212	broad.mit.edu	37	6	27925844	27925844	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:27925844C>T	ENST00000244623.1	+	1	826	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGGTTTCTCTCTTCTATGG	0.438																																						uc011dkx.1		NaN																	0				skin(1)	1						c.(826-828)CTC>TTC		olfactory receptor, family 2, subfamily B,							117.0	112.0	114.0					6																	27925844		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925844C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.826C>T	6.37:g.27925844C>T	ENSP00000244623:p.Leu276Phe						p.L276F	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	826	+			276			Helical; Name=7; (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.826C>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547377	0.45383	.	.	ENSG00000124657	ENST00000244623	T	0.00145	8.67	3.82	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.288240	0.18218	U	0.147970	T	0.00178	0.0005	M	0.82056	2.57	0.09310	N	1	D	0.59767	0.986	D	0.68192	0.956	T	0.20505	-1.0273	10	0.87932	D	0	.	6.0407	0.19732	0.2124:0.5808:0.2067:0.0	.	276	P58173	OR2B6_HUMAN	F	276	ENSP00000244623:L276F	ENSP00000244623:L276F	L	+	1	0	OR2B6	28033823	0.001000	0.12720	0.585000	0.28666	0.918000	0.54935	-0.070000	0.11523	2.044000	0.60594	0.591000	0.81541	CTC		0.438	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1				14	67	0	0	0	0.004007	0	14	67		
ZKSCAN3	80317	broad.mit.edu	37	6	28333556	28333556	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:28333556G>A	ENST00000377255.3	+	7	1408	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.E371K|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.E223K	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	371					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAAGCCATATGAGTGTGAAGA	0.493																																						uc003nle.3		NaN																	0				skin(2)	2						c.(1111-1113)GAG>AAG		zinc finger with KRAB and SCAN domains 3							93.0	92.0	93.0					6																	28333556		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333556G>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1111G>A	6.37:g.28333556G>A	ENSP00000366465:p.Glu371Lys					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.E371K|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.E223K|uc010jrd.2_5'Flank	p.E371K	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			6	1327	+			371			C2H2-type 3.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1111G>A	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	17.56	3.419466	0.62622	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.19250	2.16;3.28;2.16	3.6	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.00815	-1.16	0.22489	N	0.999057	D	0.76494	0.999	D	0.83275	0.996	T	0.21690	-1.0238	9	0.09084	T	0.74	.	5.442	0.16515	0.3273:0.0:0.6727:0.0	.	371	Q9BRR0	ZKSC3_HUMAN	K	371;223;371	ENSP00000252211:E371K;ENSP00000341883:E223K;ENSP00000366465:E371K	ENSP00000252211:E371K	E	+	1	0	ZKSCAN3	28441535	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.293000	0.08320	1.836000	0.53414	0.655000	0.94253	GAG		0.493	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493		5	80	0	0	0	0.001168	0	5	80		
OR2W1	26692	broad.mit.edu	37	6	29012734	29012734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:29012734G>C	ENST00000377175.1	-	1	283	c.219C>G	c.(217-219)ttC>ttG	p.F73L		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGCTGGTTGTGAAACATAGAT	0.428																																						uc003nlw.2		NaN																	0				ovary(2)|skin(1)	3						c.(217-219)TTC>TTG		olfactory receptor, family 2, subfamily W,							71.0	71.0	71.0					6																	29012734		1511	2709	4220	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012734G>C	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.219C>G	6.37:g.29012734G>C	ENSP00000366380:p.Phe73Leu						p.F73L	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	219	-			73			Helical; Name=2; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.219C>G	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858705	0.51376	.	.	ENSG00000204704	ENST00000377175	T	0.14022	2.54	4.78	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.07369	0.0186	L	0.58302	1.8	0.35327	D	0.785309	P	0.35124	0.485	B	0.34722	0.188	T	0.06110	-1.0845	10	0.51188	T	0.08	.	9.9856	0.41839	0.1445:0.0:0.8555:0.0	.	73	Q9Y3N9	OR2W1_HUMAN	L	73	ENSP00000366380:F73L	ENSP00000366380:F73L	F	-	3	2	OR2W1	29120713	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.251000	0.08818	2.171000	0.68590	0.585000	0.79938	TTC		0.428	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2				4	63	0	0	0	0.000602	0	4	63		
MDC1	9656	broad.mit.edu	37	6	30672288	30672288	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:30672288C>A	ENST00000376406.3	-	10	5319	c.4672G>T	c.(4672-4674)Ggc>Tgc	p.G1558C	MDC1_ENST00000376405.2_Missense_Mutation_p.G1294C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1558	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TTTGTCCTGCCCCTAGTGGCC	0.582								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(4672-4674)GGC>TGC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							123.0	139.0	133.0					6																	30672288		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672288C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4672G>T	6.37:g.30672288C>A	ENSP00000365588:p.Gly1558Cys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.G1165C	p.G1558C	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5112	-			1558			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4672G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196338	0.58126	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.10477	2.87;2.87	4.17	1.34	0.21922	.	.	.	.	.	T	0.10809	0.0264	L	0.58810	1.83	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.10497	-1.0627	9	0.42905	T	0.14	-2.6071	3.8008	0.08757	0.1907:0.6028:0.0:0.2066	.	1294;1558	Q14676-2;Q14676	.;MDC1_HUMAN	C	1558;1294;1271;1124	ENSP00000365588:G1558C;ENSP00000365587:G1294C	ENSP00000365587:G1294C	G	-	1	0	MDC1	30780267	0.000000	0.05858	0.001000	0.08648	0.590000	0.36582	-0.298000	0.08265	0.291000	0.22468	0.449000	0.29647	GGC		0.582	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		5	201	1	0	0.000157383	0.00308	0.000160071	5	201		
ATP6V1G2	534	broad.mit.edu	37	6	31516038	31516038	+	5'Flank	SNP	C	C	T	rs144376753		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31516038C>T	ENST00000303892.5	-	0	0				ATP6V1G2_ENST00000376151.4_5'Flank|ATP6V1G2_ENST00000483251.1_5'Flank|NFKBIL1_ENST00000376148.4_Silent_p.L52L|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.L52L|ATP6V1G2_ENST00000483170.1_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						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)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CCCAGGCCCTCCTCCAGCGAC	0.677																																						uc003nub.2		NaN																	0					0						c.(154-156)CTC>CTT		nuclear factor of kappa light polypeptide gene							46.0	37.0	40.0					6																	31516038		1511	2709	4220	SO:0001631	upstream_gene_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31516038C>T	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31516038C>T	Exception_encountered					BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Silent_p.L29L|NFKBIL1_uc011dns.1_Silent_p.L29L|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Silent_p.L52L	p.L52L	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN			2	275	+			52					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	ENST00000303892.5	37	c.156C>T	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.028137	0.54790	.	.	ENSG00000213760	ENST00000415099	T	0.59364	0.27	5.18	2.37	0.29283	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41142	-0.9525	6	0.49607	T	0.09	-17.7755	5.2043	0.15283	0.0:0.6434:0.1699:0.1867	.	.	.	.	E	56	ENSP00000390148:G56E	ENSP00000390148:G56E	G	-	2	0	ATP6V1G2	31624017	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	0.359000	0.20233	0.187000	0.20147	-0.144000	0.13903	GGA		0.677	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3		NM_130463		19	17	0	0	0	0.003954	0	19	17		
MSH5	4439	broad.mit.edu	37	6	31708290	31708290	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31708290G>A	ENST00000375755.3	+	2	333	c.47G>A	c.(46-48)aGa>aAa	p.R16K	CLIC1_ENST00000395892.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.R16K|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R16K|MSH5_ENST00000375742.3_Missense_Mutation_p.R16K|MSH5_ENST00000375740.3_Missense_Mutation_p.R16K|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Missense_Mutation_p.R16K|MSH5_ENST00000534153.4_Missense_Mutation_p.R16K	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	16					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CAGGGACCGAGACCTGGGGCG	0.677								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	0				ovary(2)|breast(1)	3						c.(46-48)AGA>AAA	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							11.0	13.0	12.0					6																	31708290		2166	4265	6431	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31708290G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.47G>A	6.37:g.31708290G>A	ENSP00000364908:p.Arg16Lys					MSH5_uc003nwt.1_Missense_Mutation_p.R16K|MSH5_uc003nwu.1_Missense_Mutation_p.R16K|MSH5_uc003nww.1_Missense_Mutation_p.R16K|MSH5_uc003nwx.1_Missense_Mutation_p.R16K	p.R16K	NM_172166	NP_751898	O43196	MSH5_HUMAN			2	126	+			16					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.47G>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	4.336	0.061704	0.08339	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000425703;ENST00000534153;ENST00000375703;ENST00000375740	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.64	-1.6	0.08426	.	0.954480	0.08570	N	0.926212	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.003;0.003	T	0.36720	-0.9736	9	0.02654	T	1	-17.7498	0.9043	0.01281	0.3736:0.1553:0.3119:0.1591	.	16;16;16;16	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	K	16	ENSP00000364908:R16K;ENSP00000364894:R16K;ENSP00000364903:R16K;ENSP00000402842:R16K;ENSP00000431693:R16K;ENSP00000364855:R16K;ENSP00000364892:R16K	ENSP00000364855:R16K	R	+	2	0	MSH5	31816269	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.361000	0.07612	-0.203000	0.10251	0.563000	0.77884	AGA		0.677	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				3	5	0	0	0	0.001168	0	3	5		
MSH5	4439	broad.mit.edu	37	6	31721100	31721100	+	Missense_Mutation	SNP	C	C	T	rs142533600		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:31721100C>T	ENST00000375755.3	+	11	1121	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	MSH5_ENST00000431848.2_5'UTR|MSH5_ENST00000375750.3_Missense_Mutation_p.H279Y|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.H296Y|MSH5_ENST00000375742.3_Missense_Mutation_p.H296Y|MSH5_ENST00000375740.3_Missense_Mutation_p.H296Y|MSH5_ENST00000375703.3_Missense_Mutation_p.H279Y|MSH5_ENST00000534153.4_Missense_Mutation_p.H296Y	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	279					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						ACGTCCGACTCATGACCTGGG	0.512								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NaN																	0				ovary(2)|breast(1)	3						c.(835-837)CAT>TAT	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c		C	TYR/HIS,TYR/HIS,TYR/HIS,TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	176.0	156.0	163.0		835,886,835,835	5.1	1.0	6	dbSNP_134	163	0,8600		0,0,4300	no	missense,missense,missense,missense	MSH5	NM_002441.4,NM_025259.5,NM_172165.3,NM_172166.3	83,83,83,83	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	279/835,296/823,279/836,279/835	31721100	1,13005	2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31721100C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.835C>T	6.37:g.31721100C>T	ENSP00000364908:p.His279Tyr					MSH5_uc003nwt.1_Missense_Mutation_p.H296Y|MSH5_uc003nwu.1_Missense_Mutation_p.H279Y|MSH5_uc003nww.1_Missense_Mutation_p.H279Y|MSH5_uc003nwx.1_Missense_Mutation_p.H296Y|MSH5_uc011dof.1_5'UTR|MSH5_uc003nwy.1_5'Flank	p.H279Y	NM_172166	NP_751898	O43196	MSH5_HUMAN			11	914	+			279					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.835C>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087236	0.36855	2.27E-4	0.0	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.06	5.06	0.68205	DNA mismatch repair protein MutS, core (3);	0.544348	0.18435	N	0.141307	T	0.65852	0.2731	N	0.08118	0	0.23913	N	0.996485	B;B;B;B	0.24132	0.026;0.009;0.0;0.098	B;B;B;B	0.15484	0.008;0.013;0.001;0.013	T	0.57980	-0.7717	9	0.14656	T	0.56	-12.4088	11.1012	0.48174	0.1847:0.8153:0.0:0.0	.	296;279;279;296	O43196-4;O43196;O43196-2;O43196-3	.;MSH5_HUMAN;.;.	Y	279;296;279;296;279;296;116	ENSP00000364908:H279Y;ENSP00000364894:H296Y;ENSP00000364903:H279Y;ENSP00000431693:H296Y;ENSP00000364855:H279Y;ENSP00000364892:H296Y;ENSP00000394971:H116Y	ENSP00000364855:H279Y	H	+	1	0	MSH5	31829079	0.490000	0.26012	0.980000	0.43619	0.652000	0.38707	4.225000	0.58600	2.333000	0.79357	0.563000	0.77884	CAT		0.512	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4				104	73	0	0	0	0.01441	0	104	73		
C6orf10	10665	broad.mit.edu	37	6	32261066	32261066	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:32261066C>G	ENST00000447241.2	-	23	1556	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q	C6orf10_ENST00000375007.4_Missense_Mutation_p.E460Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.E446Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E460Q|C6orf10_ENST00000375015.4_Missense_Mutation_p.E461Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E453Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	462						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACACTCACCTCAGTGTTCTTT	0.453																																						uc011dpy.1		NaN																	0				skin(1)	1						c.(1384-1386)GAG>CAG		chromosome 6 open reading frame 10							301.0	332.0	321.0					6																	32261066		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32261066C>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1384G>C	6.37:g.32261066C>G	ENSP00000415517:p.Glu462Gln					C6orf10_uc011dpx.1_Missense_Mutation_p.E244Q	p.E462Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1557	-			462					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1384G>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072410	0.36566	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.05786	3.39;3.69;3.68;3.66;3.68;3.67	4.07	0.101	0.14517	.	.	.	.	.	T	0.06735	0.0172	L	0.56280	1.765	0.09310	N	1	B;D	0.76494	0.229;0.999	B;D	0.85130	0.142;0.997	T	0.21449	-1.0245	9	0.44086	T	0.13	-4.1297	5.1259	0.14884	0.0:0.5718:0.1514:0.2769	.	462;453	Q5SRN2;C9J9T8	CF010_HUMAN;.	Q	453;462;461;460;446;460;459;459	ENSP00000411164:E453Q;ENSP00000415517:E462Q;ENSP00000364155:E461Q;ENSP00000431199:E460Q;ENSP00000435103:E446Q;ENSP00000364146:E460Q	ENSP00000303292:E459Q	E	-	1	0	C6orf10	32369044	0.057000	0.20700	0.003000	0.11579	0.005000	0.04900	0.155000	0.16362	-0.102000	0.12197	-0.228000	0.12330	GAG		0.453	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4		NM_006781		10	233	0	0	0	0.013537	0	10	233		
SYNGAP1	8831	broad.mit.edu	37	6	33393617	33393617	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:33393617C>G	ENST00000418600.2	+	3	333	c.232C>G	c.(232-234)Cgc>Ggc	p.R78G	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R78G|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	78					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGAGTCCAGTCGCAACAAACT	0.692																																						uc011dri.1		NaN																	0				ovary(4)	4						c.(232-234)CGC>GGC		synaptic Ras GTPase activating protein 1							54.0	46.0	49.0					6																	33393617		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33393617C>G	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.232C>G	6.37:g.33393617C>G	ENSP00000403636:p.Arg78Gly					SYNGAP1_uc003oeo.1_Missense_Mutation_p.R63G|SYNGAP1_uc010juy.2_Missense_Mutation_p.R63G	p.R78G	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			3	427	+			78					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.232C>G	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	c	17.28	3.349205	0.61183	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.21734	1.99;2.09	2.75	2.75	0.32379	Pleckstrin homology domain (1);	0.000000	0.56097	U	0.000040	T	0.08044	0.0201	L	0.47716	1.5	0.34085	D	0.660061	B;P;B	0.35780	0.385;0.52;0.024	B;B;B	0.25614	0.028;0.062;0.018	T	0.15037	-1.0451	10	0.72032	D	0.01	.	11.7209	0.51680	0.0:1.0:0.0:0.0	.	78;78;78	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	G	78	ENSP00000293748:R78G;ENSP00000403636:R78G	ENSP00000293748:R78G	R	+	1	0	SYNGAP1	33501595	0.999000	0.42202	0.999000	0.59377	0.964000	0.63967	1.553000	0.36255	1.874000	0.54306	0.281000	0.19383	CGC		0.692	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407		34	52	0	0	0	0.013114	0	34	52		
SYNGAP1	8831	broad.mit.edu	37	6	33408987	33408987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:33408987G>T	ENST00000418600.2	+	12	2052	c.1951G>T	c.(1951-1953)Gag>Tag	p.E651*	SYNGAP1_ENST00000293748.5_Nonsense_Mutation_p.E651*|SYNGAP1_ENST00000428982.2_Nonsense_Mutation_p.E592*|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	651					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTCATGAATGAGTTTCTGGA	0.453																																						uc011dri.1		NaN																	0				ovary(4)	4						c.(1951-1953)GAG>TAG		synaptic Ras GTPase activating protein 1							151.0	131.0	138.0					6																	33408987		2203	4300	6503	SO:0001587	stop_gained	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33408987G>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1951G>T	6.37:g.33408987G>T	ENSP00000403636:p.Glu651*					SYNGAP1_uc010juy.2_Nonsense_Mutation_p.E636*|SYNGAP1_uc010juz.2_Nonsense_Mutation_p.E363*	p.E651*	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			12	2146	+			651					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	ENST00000418600.2	37	c.1951G>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	39	7.836740	0.98516	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	.	.	.	X	651;651;651;592	.	ENSP00000293748:E651X	E	+	1	0	SYNGAP1	33516965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	2.573000	0.86826	0.655000	0.94253	GAG		0.453	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407		45	32	1	0	2.18419e-29	0.01441	2.40396e-29	45	32		
GRM4	2914	broad.mit.edu	37	6	34059676	34059676	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34059676C>T	ENST00000538487.2	-	3	1163	c.720G>A	c.(718-720)caG>caA	p.Q240Q	GRM4_ENST00000544773.2_Silent_p.Q71Q|GRM4_ENST00000535756.1_Silent_p.Q107Q|GRM4_ENST00000374181.4_Silent_p.Q240Q|GRM4_ENST00000455714.2_Silent_p.Q100Q|GRM4_ENST00000609222.1_Silent_p.Q107Q|GRM4_ENST00000374177.3_Silent_p.Q171Q	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	240					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACGGGACTTCTGGATGAAGG	0.637																																						uc003oir.3		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(718-720)CAG>CAA		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						59.0	44.0	49.0					6																	34059676		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059676C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.720G>A	6.37:g.34059676C>T						GRM4_uc011dsn.1_Silent_p.Q240Q|GRM4_uc010jvh.2_Silent_p.Q240Q|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Silent_p.Q159Q|GRM4_uc011dsl.1_Silent_p.Q100Q|GRM4_uc003oiq.2_Silent_p.Q107Q|GRM4_uc011dsm.1_Silent_p.Q71Q	p.Q240Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN			2	890	-			240			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.720G>A	CCDS4787.1																																																																																				0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2				4	24	0	0	0	0.001984	0	4	24		
C6orf106	64771	broad.mit.edu	37	6	34664291	34664291	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34664291C>T	ENST00000374023.3	-	1	333	c.90G>A	c.(88-90)gaG>gaA	p.E30E	RP11-140K17.3_ENST00000606496.1_RNA|C6orf106_ENST00000374026.3_Silent_p.E30E|RP11-140K17.3_ENST00000606971.1_RNA	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	30										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GCCTCTGGAACTCGGAGATGA	0.647																																						uc003ojr.2		NaN																	0				skin(2)|ovary(1)	3						c.(88-90)GAG>GAA		chromosome 6 open reading frame 106 isoform a							73.0	48.0	57.0					6																	34664291		2203	4300	6503	SO:0001819	synonymous_variant	64771							g.chr6:34664291C>T	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.90G>A	6.37:g.34664291C>T						C6orf106_uc003ojs.2_Silent_p.E30E	p.E30E	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			1	335	-			30					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	37	c.90G>A	CCDS4796.1																																																																																				0.647	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1		NM_022758		5	21	0	0	0	0.001168	0	5	21		
ANKS1A	23294	broad.mit.edu	37	6	34985689	34985689	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:34985689C>T	ENST00000360359.3	+	11	2001	c.1863C>T	c.(1861-1863)cgC>cgT	p.R621R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AACTCAGCCGCAGCTTGTCCA	0.592																																						uc003ojx.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1861-1863)CGC>CGT		ankyrin repeat and sterile alpha motif domain							130.0	147.0	141.0					6																	34985689		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985689C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1863C>T	6.37:g.34985689C>T						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R161R|ANKS1A_uc010jvp.1_Intron	p.R621R	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	2005	+			621					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1863C>T	CCDS4798.1																																																																																				0.592	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1		XM_166478		20	183	0	0	0	0.00333	0	20	183		
SCUBE3	222663	broad.mit.edu	37	6	35211828	35211828	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:35211828G>C	ENST00000274938.7	+	17	2160	c.2160G>C	c.(2158-2160)cgG>cgC	p.R720R	SCUBE3_ENST00000394681.1_Silent_p.R736R	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AAGCAGGACGGACCCTATGCT	0.567																																						uc003okf.1		NaN																	0				skin(1)	1						c.(2158-2160)CGG>CGC		signal peptide, CUB domain, EGF-like 3							126.0	104.0	111.0					6																	35211828		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35211828G>C	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2160G>C	6.37:g.35211828G>C						SCUBE3_uc003okg.1_Silent_p.R719R|SCUBE3_uc003okh.1_Silent_p.R607R	p.R720R	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			17	2166	+			720						Silent	SNP	ENST00000274938.7	37	c.2160G>C	CCDS4800.1																																																																																				0.567	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		10	22	0	0	0	0.013537	0	10	22		
SCUBE3	222663	broad.mit.edu	37	6	35213161	35213161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:35213161C>A	ENST00000274938.7	+	19	2558	c.2558C>A	c.(2557-2559)tCt>tAt	p.S853Y	SCUBE3_ENST00000394681.1_Missense_Mutation_p.S869Y	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTCCTGCCATCTGAGGATGAG	0.567																																						uc003okf.1		NaN																	0				skin(1)	1						c.(2557-2559)TCT>TAT		signal peptide, CUB domain, EGF-like 3							100.0	92.0	95.0					6																	35213161		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213161C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2558C>A	6.37:g.35213161C>A	ENSP00000274938:p.Ser853Tyr					SCUBE3_uc003okg.1_Missense_Mutation_p.S852Y|SCUBE3_uc003okh.1_Missense_Mutation_p.S740Y	p.S853Y	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			19	2564	+			853			CUB.			Missense_Mutation	SNP	ENST00000274938.7	37	c.2558C>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842183	0.71488	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.18960	2.18;2.18	5.43	5.43	0.79202	CUB (5);	0.053868	0.85682	D	0.000000	T	0.20659	0.0497	L	0.28014	0.82	0.48632	D	0.999681	D;D	0.65815	0.993;0.995	P;D	0.63283	0.858;0.913	T	0.01670	-1.1299	10	0.72032	D	0.01	.	12.5806	0.56388	0.0:0.9241:0.0:0.0759	.	869;853	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	Y	869;853	ENSP00000378174:S869Y;ENSP00000274938:S853Y	ENSP00000274938:S853Y	S	+	2	0	SCUBE3	35321139	0.546000	0.26457	1.000000	0.80357	0.999000	0.98932	2.710000	0.47169	2.553000	0.86117	0.650000	0.86243	TCT		0.567	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		19	61	1	0	3.6726e-16	0.003954	3.94492e-16	19	61		
LRFN2	57497	broad.mit.edu	37	6	40400429	40400429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:40400429C>T	ENST00000338305.6	-	2	966	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	142						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAAAAGCCTCATCTGCGATG	0.597																																						uc003oph.1		NaN																	0				ovary(2)|skin(1)	3						c.(424-426)GAG>AAG		leucine rich repeat and fibronectin type III							67.0	63.0	64.0					6																	40400429		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400429C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.424G>A	6.37:g.40400429C>T	ENSP00000345985:p.Glu142Lys						p.E142K	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	889	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		142			LRR 4.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.424G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364675	0.11296	.	.	ENSG00000156564	ENST00000338305	T	0.02525	4.26	5.76	5.76	0.90799	.	0.377318	0.31872	N	0.006937	T	0.00906	0.0030	N	0.16307	0.4	0.24134	N	0.995758	B	0.10296	0.003	B	0.13407	0.009	T	0.48269	-0.9050	10	0.09084	T	0.74	.	18.5214	0.90954	0.0:1.0:0.0:0.0	.	142	Q9ULH4	LRFN2_HUMAN	K	142	ENSP00000345985:E142K	ENSP00000345985:E142K	E	-	1	0	LRFN2	40508407	0.007000	0.16637	0.960000	0.40013	0.371000	0.29859	1.610000	0.36869	2.736000	0.93811	0.655000	0.94253	GAG		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372		33	34	0	0	0	0.004878	0	33	34		
UBR2	23304	broad.mit.edu	37	6	42626436	42626436	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:42626436G>A	ENST00000372899.1	+	29	3374	c.3116G>A	c.(3115-3117)aGa>aAa	p.R1039K	UBR2_ENST00000372901.1_Missense_Mutation_p.R1039K|UBR2_ENST00000372883.3_Missense_Mutation_p.D547N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1039					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGATTGCCAGACTGCGCAGA	0.408																																						uc011dur.1		NaN																	0				ovary(3)|pancreas(1)	4						c.(3115-3117)AGA>AAA		ubiquitin protein ligase E3 component n-recognin							94.0	93.0	93.0					6																	42626436		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626436G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3116G>A	6.37:g.42626436G>A	ENSP00000361990:p.Arg1039Lys					UBR2_uc011dus.1_Missense_Mutation_p.R684K|UBR2_uc003osh.2_RNA	p.R1039K	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		29	3116	+	Colorectal(47;0.196)		1039			Potential.		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3116G>A	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.190094|5.190094	0.94923|0.94923	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372883|ENST00000372899;ENST00000372901	T|T;T	0.57436|0.53857	0.4|0.6;0.6	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55162|0.55162	0.1903|0.1903	L|L	0.56769|0.56769	1.78|1.78	0.35475|0.35475	D|D	0.797653|0.797653	.|D;B	.|0.76494	.|0.999;0.402	.|D;B	.|0.80764	.|0.994;0.074	T|T	0.54397|0.54397	-0.8300|-0.8300	7|10	0.30078|0.02654	T|T	0.28|1	-18.9326|-18.9326	19.7043|19.7043	0.96067|0.96067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1039;1039	.|Q8IWV8-4;Q8IWV8	.|.;UBR2_HUMAN	N|K	547|1039	ENSP00000361974:D547N|ENSP00000361990:R1039K;ENSP00000361992:R1039K	ENSP00000361974:D547N|ENSP00000361990:R1039K	D|R	+|+	1|2	0|0	UBR2|UBR2	42734414|42734414	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.975000|0.975000	0.68041|0.68041	6.782000|6.782000	0.75073|0.75073	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	GAC|AGA		0.408	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		NM_015255		15	42	0	0	0	0.00499	0	15	42		
GLTSCR1L	23506	broad.mit.edu	37	6	42796877	42796877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:42796877C>T	ENST00000314073.5	+	6	982	c.806C>T	c.(805-807)tCt>tTt	p.S269F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S269F			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	269																	TTTGGGAACTCTAGTTCCAGT	0.453																																						uc003osn.1		NaN																	0				ovary(1)	1						c.(805-807)TCT>TTT		hypothetical protein LOC23506							69.0	69.0	69.0					6																	42796877		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42796877C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.806C>T	6.37:g.42796877C>T	ENSP00000313933:p.Ser269Phe					KIAA0240_uc003osm.1_Missense_Mutation_p.S269F|KIAA0240_uc011duw.1_Missense_Mutation_p.S269F|KIAA0240_uc003oso.1_Missense_Mutation_p.S269F|KIAA0240_uc003osp.1_Missense_Mutation_p.S269F	p.S269F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	957	+	Colorectal(47;0.196)		269					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.806C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310421	0.60414	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.42131	0.98;0.98	5.22	5.22	0.72569	.	0.278717	0.31834	N	0.006981	T	0.45478	0.1344	L	0.47716	1.5	0.46874	D	0.99923	P;P;D	0.60575	0.873;0.946;0.988	P;P;P	0.56700	0.628;0.628;0.804	T	0.33904	-0.9850	10	0.48119	T	0.1	-2.9654	19.1617	0.93535	0.0:1.0:0.0:0.0	.	269;269;269	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	F	269	ENSP00000313933:S269F;ENSP00000377723:S269F	ENSP00000313933:S269F	S	+	2	0	KIAA0240	42904855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.946000	0.75953	2.581000	0.87130	0.655000	0.94253	TCT		0.453	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3		NM_015349		14	20	0	0	0	0.00499	0	14	20		
XPO5	57510	broad.mit.edu	37	6	43492227	43492227	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:43492227G>C	ENST00000265351.7	-	31	3669	c.3459C>G	c.(3457-3459)ctC>ctG	p.L1153L	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1153					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AACCAGCAATGAGGCGTTTGA	0.473																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(3457-3459)CTC>CTG		exportin 5							94.0	94.0	94.0					6																	43492227		1908	4113	6021	SO:0001819	synonymous_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43492227G>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3459C>G	6.37:g.43492227G>C						POLR1C_uc003ovo.1_Intron	p.L1153L	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		31	3670	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		1153					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	c.3459C>G	CCDS47430.1																																																																																				0.473	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		11	42	0	0	0	0.004007	0	11	42		
REV3L	5980	broad.mit.edu	37	6	111696839	111696839	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:111696839C>G	ENST00000358835.3	-	14	3173	c.2719G>C	c.(2719-2721)Gag>Cag	p.E907Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E907Q|REV3L_ENST00000435970.1_Missense_Mutation_p.E829Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E907Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	907					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGGACTGCTCAGTTTCTAAC	0.378								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2719-2721)GAG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							99.0	100.0	99.0					6																	111696839		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696839C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2719G>C	6.37:g.111696839C>G	ENSP00000351697:p.Glu907Gln					REV3L_uc003pux.3_Missense_Mutation_p.E829Q|REV3L_uc003puz.3_Missense_Mutation_p.E829Q	p.E907Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	3042	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	907					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2719G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030587	0.54790	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01629	4.81;4.81;4.81;4.72	5.67	5.67	0.87782	Ribonuclease H-like (1);	0.428235	0.24625	N	0.036937	T	0.04497	0.0123	M	0.71581	2.175	0.34890	D	0.745435	D	0.71674	0.998	P	0.59115	0.852	T	0.08534	-1.0717	10	0.87932	D	0	-14.6933	15.3894	0.74731	0.1398:0.8602:0.0:0.0	.	907	O60673	DPOLZ_HUMAN	Q	907;907;907;829	ENSP00000357792:E907Q;ENSP00000357795:E907Q;ENSP00000351697:E907Q;ENSP00000402003:E829Q	ENSP00000351697:E907Q	E	-	1	0	REV3L	111803532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.772000	0.47678	2.680000	0.91292	0.655000	0.94253	GAG		0.378	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		4	57	0	0	0	0.001855	0	4	57		
REV3L	5980	broad.mit.edu	37	6	111696872	111696872	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:111696872C>G	ENST00000358835.3	-	14	3140	c.2686G>C	c.(2686-2688)Gac>Cac	p.D896H	REV3L_ENST00000368802.3_Missense_Mutation_p.D896H|REV3L_ENST00000435970.1_Missense_Mutation_p.D818H|REV3L_ENST00000368805.1_Missense_Mutation_p.D896H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	896					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGTGACAGTCTATAAAACCA	0.368								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2686-2688)GAC>CAC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							88.0	91.0	90.0					6																	111696872		2203	4299	6502	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696872C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2686G>C	6.37:g.111696872C>G	ENSP00000351697:p.Asp896His					REV3L_uc003pux.3_Missense_Mutation_p.D818H|REV3L_uc003puz.3_Missense_Mutation_p.D818H	p.D896H	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	3009	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	896					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2686G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354268	0.61293	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01871	4.69;4.69;4.69;4.59	5.67	5.67	0.87782	Ribonuclease H-like (1);	0.285649	0.33854	N	0.004486	T	0.06917	0.0176	L	0.57536	1.79	0.43841	D	0.996424	D	0.89917	1.0	D	0.67231	0.95	T	0.20706	-1.0267	10	0.62326	D	0.03	-16.7542	19.7775	0.96400	0.0:1.0:0.0:0.0	.	896	O60673	DPOLZ_HUMAN	H	896;896;896;818	ENSP00000357792:D896H;ENSP00000357795:D896H;ENSP00000351697:D896H;ENSP00000402003:D818H	ENSP00000351697:D896H	D	-	1	0	REV3L	111803565	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.591000	0.61019	2.680000	0.91292	0.655000	0.94253	GAC		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		6	53	0	0	0	0.003163	0	6	53		
RSPH4A	345895	broad.mit.edu	37	6	116949506	116949506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:116949506C>T	ENST00000229554.5	+	3	1773	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	RSPH4A_ENST00000368581.4_Missense_Mutation_p.H546Y|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	546	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAATTGGGTTCATCATGTACA	0.403									Kartagener syndrome																													uc003pxe.2		NaN																	0					0						c.(1636-1638)CAT>TAT		radial spoke head 4 homolog A isoform 1							126.0	127.0	126.0					6																	116949506		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949506C>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1636C>T	6.37:g.116949506C>T	ENSP00000229554:p.His546Tyr					RSPH4A_uc010kee.2_Missense_Mutation_p.H546Y	p.H546Y	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			3	1781	+			546			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1636C>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356698	0.82243	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.61392	0.11;0.11	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78821	-0.2053	10	0.56958	D	0.05	-22.8354	17.3323	0.87268	0.0:1.0:0.0:0.0	.	546;546	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	Y	546;546;341	ENSP00000357570:H546Y;ENSP00000229554:H546Y	ENSP00000229554:H546Y	H	+	1	0	RSPH4A	117056199	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.640000	0.67875	2.701000	0.92244	0.655000	0.94253	CAT		0.403	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1		NM_001010892		37	120	0	0	0	0.01441	0	37	120		
KIAA1244	57221	broad.mit.edu	37	6	138483238	138483238	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138483238G>A	ENST00000251691.4	+	1	181	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGAAATCCTGAGGAAGCTGC	0.697																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(13-15)CTG>CTA		brefeldin A-inhibited guanine							37.0	45.0	42.0					6																	138483238		1907	4129	6036	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138483238G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.15G>A	6.37:g.138483238G>A							p.L5L	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	1	15	+	Breast(32;0.135)		5						Silent	SNP	ENST00000251691.4	37	c.15G>A	CCDS5189.2																																																																																				0.697	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		3	22	0	0	0	0.009096	0	3	22		
KIAA1244	57221	broad.mit.edu	37	6	138655797	138655797	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138655797C>A	ENST00000251691.4	+	33	5980	c.5814C>A	c.(5812-5814)ttC>ttA	p.F1938L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCCGTTCTTCATCCTGCCCT	0.572																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(5812-5814)TTC>TTA		brefeldin A-inhibited guanine							51.0	46.0	47.0					6																	138655797		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655797C>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5814C>A	6.37:g.138655797C>A	ENSP00000251691:p.Phe1938Leu						p.F1938L	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5814	+	Breast(32;0.135)		1938						Missense_Mutation	SNP	ENST00000251691.4	37	c.5814C>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340476	0.60963	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.35048	1.33	5.87	2.16	0.27623	.	1.797960	0.01981	N	0.044838	T	0.11580	0.0282	L	0.34521	1.04	0.49687	D	0.99981	P	0.43094	0.799	B	0.32762	0.152	T	0.31696	-0.9934	10	0.21014	T	0.42	-22.986	10.7771	0.46356	0.0:0.7462:0.0:0.2538	.	1938	Q5TH69	BIG3_HUMAN	L	1938;103	ENSP00000251691:F1938L	ENSP00000251691:F1938L	F	+	3	2	KIAA1244	138697490	0.999000	0.42202	0.713000	0.30519	0.754000	0.42855	0.883000	0.28200	0.115000	0.18071	0.543000	0.68304	TTC		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		7	36	1	0	5.16669e-11	0.010729	5.51662e-11	7	36		
KIAA1244	57221	broad.mit.edu	37	6	138655808	138655808	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:138655808C>T	ENST00000251691.4	+	33	5991	c.5825C>T	c.(5824-5826)tCc>tTc	p.S1942F		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATCCTGCCCTCCTTCCAGTCC	0.577																																						uc003qhu.2		NaN																	0				ovary(1)|skin(1)	2						c.(5824-5826)TCC>TTC		brefeldin A-inhibited guanine							46.0	41.0	43.0					6																	138655808		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655808C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5825C>T	6.37:g.138655808C>T	ENSP00000251691:p.Ser1942Phe						p.S1942F	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5825	+	Breast(32;0.135)		1942						Missense_Mutation	SNP	ENST00000251691.4	37	c.5825C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222687	0.39300	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.20332	2.08	5.87	5.0	0.66597	.	1.138060	0.06086	N	0.662767	T	0.09158	0.0226	L	0.32530	0.975	0.43010	D	0.994543	P	0.45902	0.868	B	0.34038	0.174	T	0.24440	-1.0160	10	0.56958	D	0.05	-18.6224	15.1638	0.72803	0.0:0.9322:0.0:0.0678	.	1942	Q5TH69	BIG3_HUMAN	F	1942;107	ENSP00000251691:S1942F	ENSP00000251691:S1942F	S	+	2	0	KIAA1244	138697501	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.820000	0.69250	1.487000	0.48415	0.543000	0.68304	TCC		0.577	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340		7	30	0	0	0	0.013537	0	7	30		
SLC22A2	6582	broad.mit.edu	37	6	160664743	160664743	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:160664743G>A	ENST00000366953.3	-	7	1398	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	380					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CAGAGTAGAAGAAATCCAGGT	0.527																																						uc003qtf.2		NaN																	0				breast(1)|skin(1)	2						c.(1138-1140)TTC>TTT		solute carrier family 22 member 2							110.0	100.0	103.0					6																	160664743		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160664743G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1140C>T	6.37:g.160664743G>A						SLC22A2_uc003qte.1_Silent_p.F380F	p.F380F	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	7	1310	-		Breast(66;0.000776)|Ovarian(120;0.0303)	380			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.1140C>T	CCDS5276.1																																																																																				0.527	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1		NM_003058		19	52	0	0	0	0.00333	0	19	52		
CARD11	84433	broad.mit.edu	37	7	2978460	2978460	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:2978460C>T	ENST00000396946.4	-	7	1273	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	290					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGCGCTTCCCGGCCTGGG	0.632			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(868-870)GGG>GGA		caspase recruitment domain family, member 11							51.0	45.0	47.0					7																	2978460		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2978460C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.870G>A	7.37:g.2978460C>T							p.G290G	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	7	1274	-		Ovarian(82;0.0115)	290			Potential.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.870G>A	CCDS5336.2																																																																																				0.632	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		15	50	0	0	0	0.010504	0	15	50		
COL28A1	340267	broad.mit.edu	37	7	7421178	7421178	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:7421178C>T	ENST00000399429.3	-	28	2342	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	734	Collagen-like 6.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CACTTACCTTCTGGCCTGGGA	0.458																																						uc003src.1		NaN																	0				skin(3)	3						c.(2200-2202)CAG>CAA		collagen, type XXVIII precursor							180.0	178.0	179.0					7																	7421178		1883	4113	5996	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7421178C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2202G>A	7.37:g.7421178C>T						COL28A1_uc011jxe.1_Silent_p.Q417Q	p.Q734Q	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	28	2319	-		Ovarian(82;0.0789)	734			Collagen-like 6.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2202G>A	CCDS43553.1																																																																																				0.458	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1		NM_001037763		40	79	0	0	0	0.01441	0	40	79		
COL28A1	340267	broad.mit.edu	37	7	7516808	7516808	+	Missense_Mutation	SNP	G	G	A	rs201982609		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:7516808G>A	ENST00000399429.3	-	14	1308	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	390	Collagen-like 3.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGACCACGGGGACCCTGGTTa	0.478																																						uc003src.1		NaN																	0				skin(3)	3						c.(1168-1170)CCC>TCC		collagen, type XXVIII precursor							47.0	48.0	48.0					7																	7516808		1848	4092	5940	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7516808G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1168C>T	7.37:g.7516808G>A	ENSP00000382356:p.Pro390Ser					COL28A1_uc011jxe.1_Missense_Mutation_p.P73S|COL28A1_uc003srd.2_5'UTR	p.P390S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	14	1285	-		Ovarian(82;0.0789)	390			Collagen-like 3.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1168C>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687635	0.68157	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.96587	-4.06	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000007	D	0.95825	0.8641	L	0.52364	1.645	0.49213	D	0.999762	D;P	0.54397	0.966;0.943	P;P	0.56088	0.791;0.622	D	0.93270	0.6651	10	0.14252	T	0.57	-0.2154	13.8698	0.63612	0.0:0.0:1.0:0.0	.	390;390	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	S	390	ENSP00000382356:P390S	ENSP00000382347:P390S	P	-	1	0	COL28A1	7483333	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.691000	0.47010	2.749000	0.94314	0.491000	0.48974	CCC		0.478	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1		NM_001037763		8	28	0	0	0	0.006214	0	8	28		
SNX13	23161	broad.mit.edu	37	7	17890577	17890577	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:17890577G>C	ENST00000409389.1	-	10	1020	c.848C>G	c.(847-849)tCt>tGt	p.S283C	SNX13_ENST00000428135.3_Missense_Mutation_p.S283C			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	283	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GTTGCAGTTAGAATCACGGAT	0.378																																						uc003stw.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(847-849)TCT>TGT		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							67.0	58.0	61.0					7																	17890577		1843	4092	5935	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17890577G>C	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.848C>G	7.37:g.17890577G>C	ENSP00000386705:p.Ser283Cys					SNX13_uc003stv.2_Missense_Mutation_p.S283C|SNX13_uc010kuc.2_Missense_Mutation_p.S80C	p.S283C			Q9Y5W8	SNX13_HUMAN			10	1061	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		283			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.848C>G		.	.	.	.	.	.	.	.	.	.	G	13.54	2.266824	0.40095	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.21191	2.02;2.28	5.58	5.58	0.84498	.	0.048749	0.85682	D	0.000000	T	0.22282	0.0537	L	0.47716	1.5	0.80722	D	1	B;B;B	0.23058	0.037;0.055;0.079	B;B;B	0.27170	0.02;0.077;0.041	T	0.02269	-1.1185	10	0.56958	D	0.05	-5.0743	12.8518	0.57862	0.0747:0.0:0.9253:0.0	.	80;283;283	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	C	283;283;331	ENSP00000386705:S283C;ENSP00000398789:S283C	ENSP00000242044:S331C	S	-	2	0	SNX13	17857102	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.229000	0.65316	2.626000	0.88956	0.313000	0.20887	TCT		0.378	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1		NM_015132		3	12	0	0	0	0.000602	0	3	12		
BBS9	27241	broad.mit.edu	37	7	33407465	33407465	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:33407465A>C	ENST00000242067.6	+	17	2301	c.1780A>C	c.(1780-1782)Aaa>Caa	p.K594Q	BBS9_ENST00000350941.3_Missense_Mutation_p.K554Q|BBS9_ENST00000354265.4_Missense_Mutation_p.K559Q|BBS9_ENST00000396127.2_Missense_Mutation_p.K559Q|BBS9_ENST00000355070.2_Missense_Mutation_p.K589Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	594					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)			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)			TCTTGCTTCCAAAACTTCTCG	0.363									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1780-1782)AAA>CAA		parathyroid hormone-responsive B1 isoform 2							169.0	154.0	159.0					7																	33407465		2203	4300	6503	SO:0001583	missense	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.chr7:33407465A>C		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.1780A>C	7.37:g.33407465A>C	ENSP00000242067:p.Lys594Gln					BBS9_uc003tdo.1_Missense_Mutation_p.K559Q|BBS9_uc003tdp.1_Missense_Mutation_p.K589Q|BBS9_uc003tdq.1_Missense_Mutation_p.K554Q|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K118Q|BBS9_uc003tds.1_Missense_Mutation_p.K17Q|BBS9_uc011kao.1_Missense_Mutation_p.K472Q	p.K594Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		17	2293	+			594					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1780A>C	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.290141|4.290141	0.80914|0.80914	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.27720|.	1.65;1.65;1.65;1.65;1.65|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.051223|.	0.85682|.	D|.	0.000000|.	T|T	0.74543|0.74543	0.3730|0.3730	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.63880|.	0.993;0.993;0.993;0.993;0.993|.	D;D;D;D;D|.	0.64595|.	0.927;0.927;0.927;0.927;0.927|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.62326|.	D|.	0.03|.	-17.0072|-17.0072	15.2317|15.2317	0.73395|0.73395	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	594;554;589;559;594|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	Q|P	594;554;559;589;559;594|160	ENSP00000242067:K594Q;ENSP00000313122:K554Q;ENSP00000379433:K559Q;ENSP00000347182:K589Q;ENSP00000346214:K559Q|.	ENSP00000242067:K594Q|.	K|Q	+|+	1|2	0|0	BBS9|BBS9	33373990|33373990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.438000|6.438000	0.73426|0.73426	2.079000|2.079000	0.62486|0.62486	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.363	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				12	49	0	0	0	0.013537	0	12	49		
ABCA13	154664	broad.mit.edu	37	7	48318544	48318544	+	Nonsense_Mutation	SNP	G	G	T	rs367901840		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:48318544G>T	ENST00000435803.1	+	18	7777	c.7753G>T	c.(7753-7755)Gaa>Taa	p.E2585*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2585					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCACATTTGAAAAGATAAA	0.308																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7753-7755)GAA>TAA		ATP binding cassette, sub-family A (ABC1),							53.0	57.0	55.0					7																	48318544		1800	4063	5863	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318544G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7753G>T	7.37:g.48318544G>T	ENSP00000411096:p.Glu2585*					ABCA13_uc010kys.1_5'Flank	p.E2585*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7778	+			2585					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.7753G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	47	13.478010	0.99744	.	.	ENSG00000179869	ENST00000435803	.	.	.	4.93	-0.301	0.12800	.	0.561448	0.16159	N	0.226863	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.8456	0.08933	0.3571:0.2729:0.37:0.0	.	.	.	.	X	2585	.	ENSP00000411096:E2585X	E	+	1	0	ABCA13	48289090	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	0.145000	0.16157	0.449000	0.26747	0.655000	0.94253	GAA		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		17	65	1	0	8.00594e-06	0.007413	8.25228e-06	17	65		
FIGNL1	63979	broad.mit.edu	37	7	50513083	50513083	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:50513083G>C	ENST00000419119.1	-	2	3456	c.1903C>G	c.(1903-1905)Caa>Gaa	p.Q635E	FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q635E|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q635E|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q635E			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	635					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GGTCGAACTTGATCCGGTGTT	0.418																																						uc003tpc.2		NaN																	0				ovary(3)	3						c.(1903-1905)CAA>GAA		fidgetin-like 1							85.0	83.0	84.0					7																	50513083		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513083G>C	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1903C>G	7.37:g.50513083G>C	ENSP00000410811:p.Gln635Glu					FIGNL1_uc003tpb.2_Missense_Mutation_p.Q524E|FIGNL1_uc003tpd.2_Missense_Mutation_p.Q635E|FIGNL1_uc003tpe.2_Missense_Mutation_p.Q635E|FIGNL1_uc010kyy.2_Missense_Mutation_p.Q635E	p.Q635E	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	2280	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	635					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1903C>G	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965125	0.53507	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	L	0.33093	0.98	0.80722	D	1	B	0.29136	0.234	B	0.26969	0.075	D	0.93516	0.6857	10	0.26408	T	0.33	-9.9841	19.8676	0.96824	0.0:0.0:1.0:0.0	.	635	Q6PIW4	FIGL1_HUMAN	E	635	ENSP00000349356:Q635E;ENSP00000378924:Q635E;ENSP00000399997:Q635E;ENSP00000410811:Q635E	ENSP00000349356:Q635E	Q	-	1	0	FIGNL1	50480577	1.000000	0.71417	0.966000	0.40874	0.954000	0.61252	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAA		0.418	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1		NM_001042762		16	39	0	0	0	0.00499	0	16	39		
WBSCR17	64409	broad.mit.edu	37	7	71130439	71130439	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:71130439G>A	ENST00000333538.5	+	7	1758	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	375	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCTTGCTCACGGGTGGCCCAC	0.517																																						uc003tvy.2		NaN																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1123-1125)CGG>CAG		UDP-GalNAc:polypeptide							108.0	105.0	106.0					7																	71130439		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71130439G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1124G>A	7.37:g.71130439G>A	ENSP00000329654:p.Arg375Gln					WBSCR17_uc003tvz.2_Missense_Mutation_p.R74Q	p.R375Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			7	1124	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	375			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1124G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	36	5.695695	0.96802	.	.	ENSG00000185274	ENST00000333538	T	0.68331	-0.32	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.89487	0.3754	10	0.72032	D	0.01	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	375	Q6IS24	GLTL3_HUMAN	Q	375	ENSP00000329654:R375Q	ENSP00000329654:R375Q	R	+	2	0	WBSCR17	70768375	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	CGG		0.517	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1		NM_022479		5	75	0	0	0	0.00308	0	5	75		
Unknown	0	broad.mit.edu	37	7	75130895	75130895	+	IGR	SNP	C	C	T	rs201755312	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:75130895C>T								POM121C (15347 upstream) : PMS2P3 (6179 downstream)																							TCCATGAACCCGAGGGCCAGG	0.592													.|||	2	0.000399361	0.0	0.0014	5008	,	,		16733	0.0		0.001	False		,,,				2504	0.0					uc011kfy.1		NaN																	0					0						c.(769-771)CCG>CTG		speedy homolog E5							106.0	127.0	119.0					7																	75130895		1508	2705	4213	SO:0001628	intergenic_variant	442590							g.chr7:75130895C>T																													7.37:g.75130895C>T							p.P257L	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN			6	906	+			257			Arg-rich.			Missense_Mutation	SNP		37	c.770C>T																																																																																				0	0.592										6	291	0	0	0	0.010729	0	6	291		
DMTF1	9988	broad.mit.edu	37	7	86794344	86794344	+	Silent	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:86794344C>A	ENST00000394703.5	+	5	650	c.87C>A	c.(85-87)ctC>ctA	p.L29L	DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Silent_p.L29L|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Silent_p.L29L|DMTF1_ENST00000331242.7_Silent_p.L29L|DMTF1_ENST00000394702.3_Silent_p.L29L	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	29	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AAGGGAATCTCATTCTTCACT	0.418																																						uc003uih.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(85-87)CTC>CTA		cyclin D binding myb-like transcription factor 1							89.0	71.0	78.0					7																	86794344		2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86794344C>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.87C>A	7.37:g.86794344C>A						DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Intron|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.L29L|DMTF1_uc003uim.1_Silent_p.L29L|DMTF1_uc003uin.2_5'UTR	p.L29L	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			3	413	+	Esophageal squamous(14;0.0058)		29			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.87C>A	CCDS5601.1																																																																																				0.418	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5		NM_021145		15	49	1	0	5.35267e-07	0.007413	5.59265e-07	15	49		
ABCB1	5243	broad.mit.edu	37	7	87150136	87150136	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87150136C>A	ENST00000265724.3	-	23	3159	c.2742G>T	c.(2740-2742)caG>caT	p.Q914H	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	914	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTCAAACTTCTGCTCCTGAG	0.408																																						uc003uiz.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2740-2742)CAG>CAT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						131.0	121.0	124.0					7																	87150136		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87150136C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2742G>T	7.37:g.87150136C>A	ENSP00000265724:p.Gln914His					ABCB1_uc011khc.1_Missense_Mutation_p.Q850H	p.Q914H	NM_000927	NP_000918	P08183	MDR1_HUMAN			23	3160	-	Esophageal squamous(14;0.00164)		914			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2742G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330609	0.41297	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89746	-2.56;-2.56	5.28	3.2	0.36748	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.459443	0.23881	N	0.043649	D	0.83294	0.5223	L	0.28504	0.86	0.34245	D	0.678125	P;P	0.49253	0.566;0.921	B;P	0.49561	0.168;0.615	D	0.83484	0.0066	10	0.72032	D	0.01	-4.3425	2.4381	0.04488	0.2509:0.4231:0.0:0.326	.	850;914	B5AK60;P08183	.;MDR1_HUMAN	H	695;914;850	ENSP00000265724:Q914H;ENSP00000444095:Q850H	ENSP00000265724:Q914H	Q	-	3	2	ABCB1	86988072	0.664000	0.27457	1.000000	0.80357	0.981000	0.71138	0.692000	0.25482	0.469000	0.27268	0.655000	0.94253	CAG		0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		36	64	1	0	6.4771e-29	0.010771	7.11419e-29	36	64		
ABCB1	5243	broad.mit.edu	37	7	87174162	87174162	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87174162T>C	ENST00000265724.3	-	17	2458	c.2041A>G	c.(2041-2043)Aag>Gag	p.K681E	ABCB1_ENST00000543898.1_Missense_Mutation_p.K617E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	681					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTACTAAGCTTTCTGTCTTGG	0.433																																						uc003uiz.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2041-2043)AAG>GAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						164.0	144.0	151.0					7																	87174162		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174162T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2041A>G	7.37:g.87174162T>C	ENSP00000265724:p.Lys681Glu					ABCB1_uc011khc.1_Missense_Mutation_p.K617E	p.K681E	NM_000927	NP_000918	P08183	MDR1_HUMAN			17	2459	-	Esophageal squamous(14;0.00164)		681			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2041A>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995059	0.35226	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.87256	-2.21;-2.23	4.92	3.73	0.42828	.	1.197320	0.05579	N	0.572543	T	0.76492	0.3995	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59915	-0.7364	10	0.11485	T	0.65	-7.4564	8.7611	0.34676	0.0:0.1575:0.0:0.8425	.	617;681	B5AK60;P08183	.;MDR1_HUMAN	E	462;681;617	ENSP00000265724:K681E;ENSP00000444095:K617E	ENSP00000265724:K681E	K	-	1	0	ABCB1	87012098	0.001000	0.12720	0.070000	0.20053	0.984000	0.73092	0.549000	0.23329	0.974000	0.38366	0.528000	0.53228	AAG		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		10	100	0	0	0	0.001855	0	10	100		
ABCB1	5243	broad.mit.edu	37	7	87180046	87180046	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:87180046C>G	ENST00000265724.3	-	11	1525	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	370					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTTACATTATCAATTATCTTG	0.373																																						uc003uiz.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1108-1110)GAT>CAT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						123.0	117.0	119.0					7																	87180046		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87180046C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1108G>C	7.37:g.87180046C>G	ENSP00000265724:p.Asp370His					ABCB1_uc011khc.1_Missense_Mutation_p.D306H	p.D370H	NM_000927	NP_000918	P08183	MDR1_HUMAN			11	1526	-	Esophageal squamous(14;0.00164)		370			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1108G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196301	0.78902	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91237	-2.81;-2.81	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.947	D	0.95571	0.8638	10	0.87932	D	0	-27.719	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	306;370	B5AK60;P08183	.;MDR1_HUMAN	H	151;370;306	ENSP00000265724:D370H;ENSP00000444095:D306H	ENSP00000265724:D370H	D	-	1	0	ABCB1	87017982	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.989000	0.56958	2.941000	0.99782	0.655000	0.94253	GAT		0.373	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927		13	37	0	0	0	0.007413	0	13	37		
CFAP69	79846	broad.mit.edu	37	7	89912334	89912334	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:89912334G>C	ENST00000389297.4	+	13	1752	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	C7orf63_ENST00000497910.1_Missense_Mutation_p.D483H|C7orf63_ENST00000316089.8_Missense_Mutation_p.D501H	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		501										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTAAACAAAGATCTTTGTGA	0.383																																						uc010lep.2		NaN																	0				ovary(1)	1						c.(1501-1503)GAT>CAT		hypothetical protein LOC79846 isoform 1							88.0	83.0	84.0					7																	89912334		1869	4096	5965	SO:0001583	missense	79846						binding	g.chr7:89912334G>C																												ENST00000389297.4:c.1501G>C	7.37:g.89912334G>C	ENSP00000373948:p.Asp501His					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.D176H|C7orf63_uc011khj.1_Missense_Mutation_p.D483H|C7orf63_uc011khk.1_Missense_Mutation_p.D63H	p.D501H	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			13	1752	+			501					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1501G>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406872	0.62399	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.48	4.6	0.57074	Armadillo-type fold (1);	0.048080	0.85682	D	0.000000	T	0.54319	0.1851	M	0.78049	2.395	0.40116	D	0.976545	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.81914	0.995;0.974;0.847	T	0.60120	-0.7325	10	0.72032	D	0.01	-19.0349	11.214	0.48815	0.1599:0.0:0.8401:0.0	.	483;501;501	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	H	501;501;483;384;84	ENSP00000373948:D501H;ENSP00000321753:D501H;ENSP00000419549:D483H;ENSP00000392365:D384H;ENSP00000391571:D84H	ENSP00000321753:D501H	D	+	1	0	C7orf63	89750270	1.000000	0.71417	0.819000	0.32651	0.963000	0.63663	4.651000	0.61447	1.301000	0.44836	0.591000	0.81541	GAT		0.383	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4				17	28	0	0	0	0.012319	0	17	28		
ZNF394	84124	broad.mit.edu	37	7	99097298	99097298	+	Missense_Mutation	SNP	C	C	T	rs548244168		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:99097298C>T	ENST00000337673.6	-	1	622	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.R140Q	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	140	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGCAGAGCCCGCACCACGGC	0.632																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NaN																	0					0						c.(418-420)CGG>CAG		zinc finger protein 394							76.0	86.0	83.0					7																	99097298		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097298C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.419G>A	7.37:g.99097298C>T	ENSP00000337363:p.Arg140Gln					ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R140Q	p.R140Q	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	580	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		140			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.419G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759506	0.49468	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.05258	3.47;3.47	3.98	1.03	0.20045	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.344301	0.21524	N	0.073169	T	0.04588	0.0125	L	0.33485	1.01	0.21416	N	0.999698	B;B	0.22541	0.071;0.007	B;B	0.14578	0.011;0.011	T	0.34675	-0.9819	10	0.48119	T	0.1	.	5.3766	0.16168	0.0:0.572:0.0:0.428	.	140;140	Q05DA6;Q53GI3	.;ZN394_HUMAN	Q	140	ENSP00000337363:R140Q;ENSP00000409565:R140Q	ENSP00000337363:R140Q	R	-	2	0	ZNF394	98935234	0.000000	0.05858	0.063000	0.19743	0.414000	0.31173	0.088000	0.14979	0.207000	0.20607	-0.254000	0.11334	CGG		0.632	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1		NM_032164		38	99	0	0	0	0.01441	0	38	99		
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						uc003uwj.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2149-2151)CCC>CTC		zonadhesin isoform 3							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_uc003uwk.2_Missense_Mutation_p.P717L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P717L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2315	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		717			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2150C>T		.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		3	77	0	0	0	0.004672	0	3	77		
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2632-2634)CTC>CCC		zonadhesin isoform 3							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.L878P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2798	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		878			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2633T>C		.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		3	87	0	0	0	0.00308	0	3	87		
MUC17	140453	broad.mit.edu	37	7	100678824	100678824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100678824C>T	ENST00000306151.4	+	3	4191	c.4127C>T	c.(4126-4128)tCa>tTa	p.S1376L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1376	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCTGTTCATCTCCTACA	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4126-4128)TCA>TTA		mucin 17 precursor							233.0	242.0	239.0					7																	100678824		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678824C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4127C>T	7.37:g.100678824C>T	ENSP00000302716:p.Ser1376Leu					MUC17_uc010lho.1_RNA	p.S1376L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4180	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1376			Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4127C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103462	0.08731	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.838	0.838	0.18902	.	.	.	.	.	T	0.01870	0.0059	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.37304	0.246	T	0.49652	-0.8917	9	0.24483	T	0.36	.	5.1494	0.15002	0.0:1.0:0.0:0.0	.	1376	Q685J3	MUC17_HUMAN	L	1376	ENSP00000302716:S1376L	ENSP00000302716:S1376L	S	+	2	0	MUC17	100465544	0.000000	0.05858	0.009000	0.14445	0.023000	0.10783	-0.897000	0.04110	0.790000	0.33803	0.134000	0.15878	TCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		128	301	0	0	0	0.01441	0	128	301		
MUC17	140453	broad.mit.edu	37	7	100681278	100681278	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:100681278A>C	ENST00000306151.4	+	3	6645	c.6581A>C	c.(6580-6582)aAt>aCt	p.N2194T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2194	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTGACCAATTCTACTGAA	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6580-6582)AAT>ACT		mucin 17 precursor							284.0	287.0	286.0					7																	100681278		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681278A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6581A>C	7.37:g.100681278A>C	ENSP00000302716:p.Asn2194Thr					MUC17_uc010lho.1_RNA	p.N2194T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6634	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2194			Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6581A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.953	-0.705705	0.03255	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	1.5	0.534	0.17127	.	.	.	.	.	T	0.00936	0.0031	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46938	-0.9155	9	0.02654	T	1	.	2.322	0.04213	0.3021:0.5031:0.0:0.1948	.	2194	Q685J3	MUC17_HUMAN	T	2194	ENSP00000302716:N2194T	ENSP00000302716:N2194T	N	+	2	0	MUC17	100467998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.070000	0.01380	-0.008000	0.14320	-2.071000	0.00384	AAT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		6	597	0	0	0	0.003163	0	6	597		
RELN	5649	broad.mit.edu	37	7	103155835	103155835	+	Missense_Mutation	SNP	C	C	T	rs369735904		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:103155835C>T	ENST00000428762.1	-	50	8075	c.7916G>A	c.(7915-7917)cGc>cAc	p.R2639H	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R2639H|RELN_ENST00000343529.5_Missense_Mutation_p.R2639H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2639					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCCACCAGCGGAAGCGAGT	0.512																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7915-7917)CGC>CAC		reelin isoform a		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	49.0	49.0		7916,7916	5.1	1.0	7		49	0,8600		0,0,4300	no	missense,missense	RELN	NM_005045.3,NM_173054.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2639/3461,2639/3459	103155835	1,13005	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155835C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7916G>A	7.37:g.103155835C>T	ENSP00000392423:p.Arg2639His					RELN_uc010liz.2_Missense_Mutation_p.R2639H	p.R2639H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8076	-			2639					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7916G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371204	0.95923	2.27E-4	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.35973	1.28;1.28;1.28	5.12	5.12	0.69794	Neuraminidase (2);	0.054295	0.85682	D	0.000000	T	0.58680	0.2139	M	0.74467	2.265	0.80722	D	1	D;D	0.61080	0.989;0.961	P;P	0.59825	0.864;0.519	T	0.63359	-0.6655	10	0.87932	D	0	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	2639;2639	P78509-2;P78509	.;RELN_HUMAN	H	2639;2639;2639;156;2639	ENSP00000392423:R2639H;ENSP00000345694:R2639H;ENSP00000388446:R2639H	ENSP00000345694:R2639H	R	-	2	0	RELN	102943071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.276000	0.78559	2.647000	0.89833	0.643000	0.83706	CGC		0.512	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		13	42	0	0	0	0.004007	0	13	42		
SYPL1	6856	broad.mit.edu	37	7	105752610	105752610	+	Silent	SNP	G	G	C	rs147008337	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:105752610G>C	ENST00000011473.2	-	2	145	c.99C>G	c.(97-99)ctC>ctG	p.L33L	SYPL1_ENST00000455385.2_Silent_p.L15L|SYPL1_ENST00000470347.1_Silent_p.L15L	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	33	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TGATGAAGCCGAGTGGCTCCT	0.692																																						uc003vdp.2		NaN																	0					0						c.(97-99)CTC>CTG		synaptophysin-like 1 isoform a							37.0	38.0	38.0					7																	105752610		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105752610G>C		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.99C>G	7.37:g.105752610G>C						SYPL1_uc003vdo.2_Silent_p.L15L	p.L33L	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			2	181	-			33			Cytoplasmic (Potential).|MARVEL.		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.99C>G	CCDS5736.1																																																																																				0.692	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1				12	21	0	0	0	0.00245	0	12	21		
SYPL1	6856	broad.mit.edu	37	7	105752622	105752622	+	Silent	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:105752622G>C	ENST00000011473.2	-	2	133	c.87C>G	c.(85-87)ctC>ctG	p.L29L	SYPL1_ENST00000455385.2_Silent_p.L11L|SYPL1_ENST00000470347.1_Silent_p.L11L	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	29	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GTGGCTCCTTGAGCGGGTTGA	0.687																																						uc003vdp.2		NaN																	0					0						c.(85-87)CTC>CTG		synaptophysin-like 1 isoform a							40.0	41.0	40.0					7																	105752622		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105752622G>C		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.87C>G	7.37:g.105752622G>C						SYPL1_uc003vdo.2_Silent_p.L11L	p.L29L	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			2	169	-			29			Cytoplasmic (Potential).|MARVEL.		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.87C>G	CCDS5736.1																																																																																				0.687	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1				14	22	0	0	0	0.007413	0	14	22		
SLC13A1	6561	broad.mit.edu	37	7	122769443	122769443	+	Missense_Mutation	SNP	G	G	A	rs201161356		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:122769443G>A	ENST00000194130.2	-	9	1064	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	342					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACCTTATTGGCCCAAGCTT	0.418																																						uc003vkm.2		NaN																	0				ovary(2)	2						c.(1024-1026)CCA>CTA		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						236.0	184.0	202.0					7																	122769443		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122769443G>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1025C>T	7.37:g.122769443G>A	ENSP00000194130:p.Pro342Leu					SLC13A1_uc010lks.2_Missense_Mutation_p.P218L	p.P342L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			9	1050	-			342					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1025C>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975280	0.74360	.	.	ENSG00000081800	ENST00000194130	T	0.04502	3.61	5.69	4.8	0.61643	.	0.159417	0.56097	D	0.000026	T	0.27524	0.0676	M	0.91872	3.25	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.66084	0.941;0.941	T	0.30822	-0.9965	10	0.87932	D	0	-15.6412	15.7607	0.78076	0.0:0.1367:0.8633:0.0	.	342;342	A4D0X1;Q9BZW2	.;S13A1_HUMAN	L	342	ENSP00000194130:P342L	ENSP00000194130:P342L	P	-	2	0	SLC13A1	122556679	1.000000	0.71417	0.998000	0.56505	0.698000	0.40448	5.100000	0.64560	1.380000	0.46344	0.462000	0.41574	CCA		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1		NM_022444		21	27	0	0	0	0.00333	0	21	27		
TBXAS1	6916	broad.mit.edu	37	7	139661804	139661804	+	Silent	SNP	C	C	T	rs186487639	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:139661804C>T	ENST00000336425.5	+	13	1295	c.906C>T	c.(904-906)gaC>gaT	p.D302D	TBXAS1_ENST00000436047.2_Silent_p.D303D|TBXAS1_ENST00000448866.1_Silent_p.D302D|TBXAS1_ENST00000425687.1_Silent_p.D235D|TBXAS1_ENST00000458722.1_Silent_p.D348D|TBXAS1_ENST00000414508.2_Silent_p.D303D|TBXAS1_ENST00000411653.1_Silent_p.D302D|TBXAS1_ENST00000416849.2_Silent_p.D349D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000263552.6_Silent_p.D303D			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	302					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	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)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TCGTCAGAGACGTTTTCTCCT	0.562													c|||	3	0.000599042	0.0023	0.0	5008	,	,		20768	0.0		0.0	False		,,,				2504	0.0					uc011kqv.1		NaN																	0				ovary(2)|breast(1)	3						c.(1045-1047)GAC>GAT		thromboxane A synthase 1, platelet isoform		A	,,,,	1,4405	2.1+/-5.4	0,1,2202	95.0	82.0	87.0		909,909,1047,705,909	-8.4	0.0	7		87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBXAS1	NM_001061.4,NM_001130966.2,NM_001166253.1,NM_001166254.1,NM_030984.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	303/535,303/535,349/581,235/467,303/461	139661804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661804C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.906C>T	7.37:g.139661804C>T						TBXAS1_uc003vvh.2_Silent_p.D303D|TBXAS1_uc010lne.2_Silent_p.D235D|TBXAS1_uc011kqu.1_Silent_p.D254D|TBXAS1_uc003vvi.2_Silent_p.D303D|TBXAS1_uc003vvj.2_Silent_p.D303D|TBXAS1_uc011kqw.1_Silent_p.D283D	p.D349D	NM_001130966	NP_001124438	P24557	THAS_HUMAN			10	1211	+	Melanoma(164;0.0142)		302			Lumenal (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37	c.1047C>T																																																																																					0.562	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1				23	29	0	0	0	0.007291	0	23	29		
KDM7A	80853	broad.mit.edu	37	7	139799789	139799789	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:139799789T>C	ENST00000397560.2	-	13	1770	c.1673A>G	c.(1672-1674)aAc>aGc	p.N558S	JHDM1D_ENST00000006967.5_Missense_Mutation_p.N558S	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		558					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GAGATGTTTGTTGAATTTTCC	0.398																																						uc003vvm.2		NaN																	0				ovary(1)	1						c.(1672-1674)AAC>AGC		jumonji C domain containing histone demethylase							236.0	208.0	216.0					7																	139799789		1924	4139	6063	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139799789T>C																												ENST00000397560.2:c.1673A>G	7.37:g.139799789T>C	ENSP00000380692:p.Asn558Ser					JHDM1D_uc010lng.2_RNA	p.N558S	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			13	1677	-	Melanoma(164;0.0142)		558					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1673A>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287044	0.80803	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.66638	-0.22;-0.22	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.64997	1.995	0.47819	D	0.99952	D	0.67145	0.996	P	0.55923	0.787	T	0.73620	-0.3925	10	0.33141	T	0.24	-17.189	15.9688	0.79995	0.0:0.0:0.0:1.0	.	558	Q6ZMT4	KDM7_HUMAN	S	558	ENSP00000380692:N558S;ENSP00000006967:N558S	ENSP00000006967:N558S	N	-	2	0	JHDM1D	139446258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.180000	0.71981	2.235000	0.73313	0.455000	0.32223	AAC		0.398	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1				44	83	0	0	0	0.01441	0	44	83		
TRPV5	56302	broad.mit.edu	37	7	142609893	142609893	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:142609893C>G	ENST00000265310.1	-	13	1891	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	515					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGGGTCCTCTGTCTGGAAA	0.468																																						uc003wby.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1543-1545)GAG>CAG		transient receptor potential cation channel,							126.0	115.0	119.0					7																	142609893		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609893C>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1543G>C	7.37:g.142609893C>G	ENSP00000265310:p.Glu515Gln						p.E515Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			13	1807	-	Melanoma(164;0.059)		515					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1543G>C	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621964	0.46840	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.84370	-1.84;-1.84	5.52	5.52	0.82312	Ion transport (1);	0.057377	0.64402	D	0.000001	D	0.88581	0.6475	L	0.58810	1.83	0.80722	D	1	P	0.44044	0.825	P	0.52823	0.71	D	0.85445	0.1157	10	0.26408	T	0.33	-14.6069	18.8051	0.92034	0.0:1.0:0.0:0.0	.	515	Q9NQA5	TRPV5_HUMAN	Q	515;460	ENSP00000265310:E515Q;ENSP00000406361:E460Q	ENSP00000265310:E515Q	E	-	1	0	TRPV5	142320015	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.306000	0.65756	2.751000	0.94390	0.655000	0.94253	GAG		0.468	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		35	71	0	0	0	0.00874	0	35	71		
ZNF282	8427	broad.mit.edu	37	7	148921496	148921496	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:148921496C>G	ENST00000262085.3	+	8	1878	c.1773C>G	c.(1771-1773)aaC>aaG	p.N591K	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	591					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		ACCTGCAGAACCACCAGCGGC	0.632																																						uc003wfm.2		NaN																	0					0						c.(1771-1773)AAC>AAG		zinc finger protein 282							55.0	56.0	56.0					7																	148921496		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921496C>G	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1773C>G	7.37:g.148921496C>G	ENSP00000262085:p.Asn591Lys					ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	p.N591K	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1878	+	Melanoma(164;0.15)		591			C2H2-type 3.		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1773C>G	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	9.155	1.017253	0.19355	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.07567	3.18	4.04	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.227409	0.31071	N	0.008319	T	0.03348	0.0097	N	0.01705	-0.755	0.80722	D	1	B	0.25441	0.126	B	0.28916	0.096	T	0.50039	-0.8874	10	0.21014	T	0.42	-14.2474	10.5466	0.45064	0.0:0.6176:0.3824:0.0	.	591	Q9UDV7	ZN282_HUMAN	K	244;591	ENSP00000262085:N591K	ENSP00000262085:N591K	N	+	3	2	ZNF282	148552429	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-2.119000	0.01324	1.029000	0.39812	0.462000	0.41574	AAC		0.632	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1		NM_003575		12	32	0	0	0	0.001855	0	12	32		
ZNF282	8427	broad.mit.edu	37	7	148921658	148921658	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:148921658C>G	ENST00000262085.3	+	8	2040	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	645					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGGAGTCGCTCAAGGACCACC	0.721																																						uc003wfm.2		NaN																	0					0						c.(1933-1935)CTC>CTG		zinc finger protein 282							24.0	21.0	22.0					7																	148921658		2203	4299	6502	SO:0001819	synonymous_variant	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921658C>G	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1935C>G	7.37:g.148921658C>G						ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	p.L645L	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	2040	+	Melanoma(164;0.15)		645			C2H2-type 5.		B4DRI5|O43691|Q6DKK0	Silent	SNP	ENST00000262085.3	37	c.1935C>G	CCDS5895.1																																																																																				0.721	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1		NM_003575		6	7	0	0	0	0.001168	0	6	7		
SSPO	23145	broad.mit.edu	37	7	149489754	149489754	+	RNA	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:149489754C>G	ENST00000378016.2	+	0	5810							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCCGGAGCTCCAACAACCCC	0.697																																						uc010lpk.2		NaN																	0					0						c.(5809-5811)TCC>TGC		SCO-spondin precursor							25.0	34.0	31.0					7																	149489754		1998	4167	6165			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489754C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489754C>G							p.S1937C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		39	5810	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1937			TSP type-1 3.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.5810C>G																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					14	26	0	0	0	0.006122	0	14	26		
REPIN1	29803	broad.mit.edu	37	7	150068792	150068792	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:150068792C>T	ENST00000425389.2	+	1	540	c.462C>T	c.(460-462)ttC>ttT	p.F154F	REPIN1_ENST00000540729.1_Silent_p.F154F|REPIN1_ENST00000397281.2_Silent_p.F154F|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000482680.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.F211F|REPIN1_ENST00000444957.1_Silent_p.F154F	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	154					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGAGACGCTTCTGGCGACGAA	0.662																																						uc010lpq.1		NaN																	0				pancreas(1)	1						c.(460-462)TTC>TTT		replication initiator 1 isoform 1							20.0	23.0	22.0					7																	150068792		2047	4189	6236	SO:0001819	synonymous_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150068792C>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.462C>T	7.37:g.150068792C>T						REPIN1_uc003whd.2_Silent_p.F143F|REPIN1_uc010lpr.1_Silent_p.F211F|REPIN1_uc003whc.2_Silent_p.F154F|REPIN1_uc003whe.2_Silent_p.F154F	p.F154F	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	951	+	Ovarian(565;0.183)|Melanoma(164;0.226)		154			C2H2-type 4.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	c.462C>T	CCDS43677.1																																																																																				0.662	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1		NM_014374		6	6	0	0	0	0.006214	0	6	6		
KMT2C	58508	broad.mit.edu	37	7	151851456	151851456	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:151851456C>G	ENST00000262189.6	-	47	12253	c.12035G>C	c.(12034-12036)gGg>gCg	p.G4012A	KMT2C_ENST00000355193.2_Missense_Mutation_p.G4069A|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4012					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACTTCTACCCCAACCACACT	0.498																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12034-12036)GGG>GCG		myeloid/lymphoid or mixed-lineage leukemia 3							142.0	142.0	142.0					7																	151851456		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151851456C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12035G>C	7.37:g.151851456C>G	ENSP00000262189:p.Gly4012Ala					MLL3_uc003wkz.2_Missense_Mutation_p.G3130A|MLL3_uc003wkx.2_Missense_Mutation_p.G170A|MLL3_uc003wky.2_Missense_Mutation_p.G1576A	p.G4012A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	47	12254	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4012					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12035G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.107835|4.107835	0.77096|0.77096	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061|ENST00000360104	D;D;D|.	0.90900|.	-2.02;-2.0;-2.75|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.42548|.	U|.	0.000698|.	T|T	0.77545|0.77545	0.4146|0.4146	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.985;0.999;0.999|.	T|T	0.76575|0.76575	-0.2909|-0.2909	10|5	0.72032|.	D|.	0.01|.	.|.	19.4956|19.4956	0.95070|0.95070	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4012;3130;4069|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	A|C	4012;4069;629;138|1572	ENSP00000262189:G4012A;ENSP00000347325:G4069A;ENSP00000410411:G629A|.	ENSP00000262189:G4012A|.	G|W	-|-	2|3	0|0	MLL3|MLL3	151482389|151482389	1.000000|1.000000	0.71417|0.71417	0.911000|0.911000	0.35937|0.35937	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				37	121	0	0	0	0.01441	0	37	121		
FGF17	8822	broad.mit.edu	37	8	21903643	21903643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:21903643C>G	ENST00000359441.3	+	3	594	c.91C>G	c.(91-93)Cct>Gct	p.P31A	FGF17_ENST00000521709.1_Intron|FGF17_ENST00000518533.1_Intron	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	31					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TCACCCGTCTCCTAATTTTAA	0.557																																						uc003xag.2		NaN																	0					0						c.(91-93)CCT>GCT		fibroblast growth factor 17 precursor							62.0	66.0	64.0					8																	21903643		2203	4300	6503	SO:0001583	missense	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21903643C>G	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.91C>G	8.37:g.21903643C>G	ENSP00000352414:p.Pro31Ala					FGF17_uc003xah.2_Intron|FGF17_uc003xai.2_Missense_Mutation_p.P54A	p.P31A	NM_003867	NP_003858	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	3	103	+			31					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.91C>G	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624756	0.66901	.	.	ENSG00000158815	ENST00000359441	T	0.75154	-0.91	4.62	4.62	0.57501	.	0.067300	0.64402	D	0.000010	T	0.79656	0.4483	L	0.54323	1.7	0.50467	D	0.999879	D	0.64830	0.994	P	0.59171	0.853	T	0.77213	-0.2670	10	0.27082	T	0.32	-6.56	14.9673	0.71204	0.0:1.0:0.0:0.0	.	31	O60258	FGF17_HUMAN	A	31	ENSP00000352414:P31A	ENSP00000352414:P31A	P	+	1	0	FGF17	21959589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.125000	0.65367	0.462000	0.41574	CCT		0.557	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2		NM_003867		30	22	0	0	0	0.005524	0	30	22		
PNMA2	10687	broad.mit.edu	37	8	26365475	26365475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:26365475G>A	ENST00000522362.2	-	3	1691	c.797C>T	c.(796-798)tCa>tTa	p.S266L	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	266					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cacataggctgagaccttctc	0.577																																						uc003xez.2		NaN																	0					0						c.(796-798)TCA>TTA		paraneoplastic antigen MA2							57.0	55.0	56.0					8																	26365475		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365475G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.797C>T	8.37:g.26365475G>A	ENSP00000429344:p.Ser266Leu						p.S266L	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1567	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	266					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.797C>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	7.272	0.607282	0.14002	.	.	ENSG00000240694	ENST00000522362	T	0.11063	2.81	4.32	3.44	0.39384	Retrotransposon gag protein (1);	.	.	.	.	T	0.13586	0.0329	M	0.65498	2.005	0.23820	N	0.996757	B	0.14438	0.01	B	0.14023	0.01	T	0.12344	-1.0551	9	0.62326	D	0.03	-12.3036	8.2357	0.31625	0.107:0.0:0.893:0.0	.	266	Q9UL42	PNMA2_HUMAN	L	266	ENSP00000429344:S266L	ENSP00000429344:S266L	S	-	2	0	PNMA2	26421392	0.981000	0.34729	0.420000	0.26596	0.013000	0.08279	2.225000	0.42954	1.412000	0.46977	0.655000	0.94253	TCA		0.577	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2		NM_007257		13	18	0	0	0	0.003163	0	13	18		
NRG1	3084	broad.mit.edu	37	8	32621582	32621582	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:32621582C>A	ENST00000405005.3	+	12	1585	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K	NRG1_ENST00000338921.4_Missense_Mutation_p.Q537K|NRG1_ENST00000519301.1_Missense_Mutation_p.Q479K|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000539990.1_Missense_Mutation_p.Q372K|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.Q534K|NRG1_ENST00000287845.5_Missense_Mutation_p.Q500K|NRG1_ENST00000287842.3_Missense_Mutation_p.Q526K			Q02297	NRG1_HUMAN	neuregulin 1	529					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGAAACGACCCAAGAGTACGA	0.542																																						uc003xiv.2		NaN																	0					0						c.(1585-1587)CAA>AAA		neuregulin 1 isoform HRG-alpha							62.0	56.0	58.0					8																	32621582		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621582C>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1585C>A	8.37:g.32621582C>A	ENSP00000384620:p.Gln529Lys					NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.Q534K|NRG1_uc003xiw.2_Missense_Mutation_p.Q526K|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.Q271K|NRG1_uc010lvs.2_Missense_Mutation_p.Q271K|NRG1_uc010lvp.2_Missense_Mutation_p.Q483K|NRG1_uc010lvq.2_Missense_Mutation_p.Q466K|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.Q372K|NRG1_uc003xja.2_Missense_Mutation_p.Q340K	p.Q529K	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	2102	+		Breast(100;0.203)	529			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1585C>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580334	0.65992	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.138669	0.49916	D	0.000133	T	0.75729	0.3889	M	0.68317	2.08	0.80722	D	1	D;D;P;B;D;D;P	0.62365	0.975;0.962;0.946;0.005;0.962;0.991;0.933	D;P;P;B;P;D;P	0.78314	0.976;0.671;0.779;0.008;0.743;0.991;0.671	T	0.73304	-0.4025	9	.	.	.	6.3661	19.9364	0.97143	0.0:1.0:0.0:0.0	.	372;500;534;537;526;529;534	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	K	479;602;537;534;529;500;526;529;372	ENSP00000429582:Q479K;ENSP00000429067:Q602K;ENSP00000343395:Q537K;ENSP00000349275:Q534K;ENSP00000287840:Q529K;ENSP00000287845:Q500K;ENSP00000287842:Q526K;ENSP00000384620:Q529K;ENSP00000439276:Q372K	.	Q	+	1	0	NRG1	32741124	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.603000	0.67619	2.724000	0.93272	0.455000	0.32223	CAA		0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1				11	21	1	0	3.07112e-06	0.010729	3.17784e-06	11	21		
IKBKB	3551	broad.mit.edu	37	8	42176072	42176072	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:42176072C>G	ENST00000520810.1	+	13	1429	c.1243C>G	c.(1243-1245)Caa>Gaa	p.Q415E	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q192E|IKBKB_ENST00000520835.1_Missense_Mutation_p.Q413E|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q356E	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	415					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTCTCCAGTTCAAGAGCCCAA	0.498																																						uc003xow.1		NaN																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1243-1245)CAA>GAA		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						88.0	85.0	86.0					8																	42176072		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176072C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1243C>G	8.37:g.42176072C>G	ENSP00000430684:p.Gln415Glu					IKBKB_uc010lxh.1_Missense_Mutation_p.Q310E|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.Q192E|IKBKB_uc003xox.1_Missense_Mutation_p.Q136E|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.Q413E|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.Q356E	p.Q415E	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		13	1420	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	415					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1243C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642640	0.47153	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.81	4.94	0.65067	.	0.374637	0.31051	N	0.008355	T	0.64494	0.2603	M	0.71581	2.175	0.38477	D	0.947623	P;B;D;B;B	0.58268	0.495;0.203;0.982;0.129;0.129	B;B;D;B;B	0.67548	0.169;0.143;0.952;0.041;0.068	T	0.65191	-0.6228	10	0.22706	T	0.39	-22.5413	14.5044	0.67743	0.0:0.9291:0.0:0.0709	.	356;413;192;366;415	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	E	415;356;413;192	ENSP00000430684:Q415E;ENSP00000404920:Q356E;ENSP00000430868:Q413E;ENSP00000369030:Q192E	ENSP00000369030:Q192E	Q	+	1	0	IKBKB	42295229	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.756000	0.68757	1.462000	0.47948	0.555000	0.69702	CAA		0.498	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1				47	92	0	0	0	0.01441	0	47	92		
CSPP1	79848	broad.mit.edu	37	8	68044264	68044264	+	Silent	SNP	G	G	A	rs201940935		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:68044264G>A	ENST00000262210.5	+	14	1792	c.1761G>A	c.(1759-1761)ccG>ccA	p.P587P	CSPP1_ENST00000412460.1_Silent_p.P293P	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	622					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353																																						uc003xxi.2		NaN																	0				ovary(3)|breast(2)	5						c.(1864-1866)CCG>CCA		centrosome spindle pole associated protein 1							132.0	125.0	127.0					8																	68044264		1870	4106	5976	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68044264G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1761G>A	8.37:g.68044264G>A						CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P	p.P622P	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	1897	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	622					A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.1866G>A	CCDS43744.1																																																																																				0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1		NM_024790		28	69	0	0	0	0.004289	0	28	69		
TPD52	7163	broad.mit.edu	37	8	80992661	80992661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:80992661C>A	ENST00000379097.3	-	1	390	c.28G>T	c.(28-30)Gag>Tag	p.E10*	TPD52_ENST00000517427.1_Nonsense_Mutation_p.E10*|TPD52_ENST00000520527.1_Nonsense_Mutation_p.E10*|TPD52_ENST00000537855.1_Nonsense_Mutation_p.E10*|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Nonsense_Mutation_p.E10*	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	10					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TGGTAGTCCTCATATAAGTCC	0.463																																						uc003ybr.1		NaN																	0				ovary(1)	1						c.(28-30)GAG>TAG		tumor protein D52 isoform 1							78.0	72.0	74.0					8																	80992661		2203	4300	6503	SO:0001587	stop_gained	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80992661C>A	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.28G>T	8.37:g.80992661C>A	ENSP00000368391:p.Glu10*					TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron	p.E10*	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		1	350	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	10					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Nonsense_Mutation	SNP	ENST00000379097.3	37	c.28G>T	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	C	39	7.833431	0.98516	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	.	.	.	5.06	5.06	0.68205	.	0.674631	0.15106	N	0.280230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.6208	18.613	0.91293	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000368391:E10X	E	-	1	0	TPD52	81155216	0.999000	0.42202	0.931000	0.37212	0.509000	0.34042	5.164000	0.64954	2.620000	0.88729	0.579000	0.79373	GAG		0.463	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2		NM_005079		19	38	1	0	1.55469e-16	0.00333	1.68007e-16	19	38		
C8orf37	157657	broad.mit.edu	37	8	96281381	96281381	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:96281381C>G	ENST00000286688.5	-	1	48	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	13						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					AACTTGGACTCGACTTCATCC	0.592											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yho.1		NaN																	0					0						c.(37-39)GAG>CAG		hypothetical protein LOC157657							144.0	144.0	144.0					8																	96281381		2203	4300	6503	SO:0001583	missense	157657							g.chr8:96281381C>G	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.37G>C	8.37:g.96281381C>G	ENSP00000286688:p.Glu13Gln		OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1319		p.E13Q	NM_177965	NP_808880	Q96NL8	CH037_HUMAN			1	57	-	Breast(36;3.41e-05)		13						Missense_Mutation	SNP	ENST00000286688.5	37	c.37G>C	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436960	0.62955	.	.	ENSG00000156172	ENST00000286688	T	0.77098	-1.07	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.64997	1.995	0.41736	D	0.989583	D	0.89917	1.0	D	0.91635	0.999	D	0.87698	0.2558	10	0.72032	D	0.01	-19.8471	15.5938	0.76562	0.0:1.0:0.0:0.0	.	13	Q96NL8	CH037_HUMAN	Q	13	ENSP00000286688:E13Q	ENSP00000286688:E13Q	E	-	1	0	C8orf37	96350557	0.999000	0.42202	0.996000	0.52242	0.179000	0.23085	4.449000	0.60034	2.418000	0.82041	0.467000	0.42956	GAG		0.592	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1		NM_177965		82	247	0	0	0	0.01441	0	82	247		
MTERF3	51001	broad.mit.edu	37	8	97269316	97269316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:97269316G>C	ENST00000287025.3	-	3	459	c.361C>G	c.(361-363)Cca>Gca	p.P121A	MTERFD1_ENST00000523821.1_Missense_Mutation_p.P121A|MTERFD1_ENST00000522822.1_5'UTR|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		121					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GGCTGCATTGGAGACAATGGA	0.418																																						uc003yhs.1		NaN																	0				ovary(1)	1						c.(361-363)CCA>GCA		MTERF domain containing 1 precursor							121.0	113.0	116.0					8																	97269316		2203	4300	6503	SO:0001583	missense	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269316G>C																												ENST00000287025.3:c.361C>G	8.37:g.97269316G>C	ENSP00000287025:p.Pro121Ala					MTERFD1_uc003yhr.1_5'UTR|MTERFD1_uc010mbd.1_Missense_Mutation_p.P121A	p.P121A	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			3	439	-	Breast(36;5.16e-05)		121					B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	c.361C>G	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677593	0.68042	.	.	ENSG00000156469	ENST00000523821;ENST00000287025	T	0.34859	1.34	6.17	6.17	0.99709	.	0.105420	0.64402	D	0.000004	T	0.30916	0.0780	L	0.49778	1.585	0.49687	D	0.999819	P;P	0.41978	0.767;0.619	B;B	0.38683	0.279;0.172	T	0.05632	-1.0873	10	0.07990	T	0.79	-6.5689	14.5511	0.68068	0.0:0.1863:0.8137:0.0	.	121;121	E5RIK9;Q96E29	.;MTER1_HUMAN	A	121	ENSP00000287025:P121A	ENSP00000287025:P121A	P	-	1	0	MTERFD1	97338492	1.000000	0.71417	0.919000	0.36401	0.606000	0.37113	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	CCA		0.418	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1				27	134	0	0	0	0.004289	0	27	134		
MRPL13	28998	broad.mit.edu	37	8	121426333	121426333	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:121426333G>C	ENST00000306185.3	-	6	703	c.412C>G	c.(412-414)Ctt>Gtt	p.L138V		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	138					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAATTCTTAAGAATATCTTCT	0.294																																						uc003ypa.2		NaN																	0				central_nervous_system(1)	1						c.(412-414)CTT>GTT		mitochondrial ribosomal protein L13							83.0	79.0	80.0					8																	121426333		2203	4300	6503	SO:0001583	missense	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426333G>C	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.412C>G	8.37:g.121426333G>C	ENSP00000306548:p.Leu138Val					MRPL13_uc010mdf.2_RNA	p.L138V	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	725	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		138					B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	37	c.412C>G	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492589	0.44352	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	4.86	0.63082	Ribosomal protein L13 domain (2);	0.363680	0.28809	N	0.014063	T	0.56615	0.1997	M	0.63428	1.95	0.34110	D	0.662917	B	0.20368	0.044	B	0.28784	0.094	T	0.65676	-0.6110	9	0.48119	T	0.1	-10.9686	12.0559	0.53536	0.0807:0.0:0.9193:0.0	.	138	Q9BYD1	RM13_HUMAN	V	138;114	.	ENSP00000306548:L138V	L	-	1	0	MRPL13	121495514	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.362000	0.59467	1.571000	0.49722	0.561000	0.74099	CTT		0.294	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1		NM_014078		4	15	0	0	0	0.000602	0	4	15		
SCRIB	23513	broad.mit.edu	37	8	144885702	144885702	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:144885702G>A	ENST00000320476.3	-	24	3460	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SCRIB_ENST00000377533.3_Missense_Mutation_p.R1071C|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1152C	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1152	Interaction with ARHGEF7.|PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.R1152fs*38(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AAACCCACACGCAGCCGACCG	0.721																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	1	Deletion - Frameshift(1)		upper_aerodigestive_tract(1)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(3454-3456)CGT>TGT		scribble isoform b							18.0	18.0	18.0					8																	144885702		2166	4223	6389	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885702G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3454C>T	8.37:g.144885702G>A	ENSP00000322938:p.Arg1152Cys					SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1152C	p.R1152C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3461	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1152			PDZ 4.|Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3454C>T	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329671|1.329671	0.24167|0.24167	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	4.82|4.82	2.77|2.77	0.32553|0.32553	.|PDZ/DHR/GLGF (4);	.|.	.|.	.|.	.|.	T|T	0.31389|0.31389	0.0795|0.0795	M|M	0.71036|0.71036	2.16|2.16	0.43122|0.43122	D|D	0.994843|0.994843	.|B;B	.|0.21606	.|0.058;0.047	.|B;B	.|0.17098	.|0.017;0.01	T|T	0.24799|0.24799	-1.0150|-1.0150	5|9	.|0.87932	.|D	.|0	.|.	8.5307|8.5307	0.33333|0.33333	0.0929:0.0:0.7001:0.207|0.0929:0.0:0.7001:0.207	.|.	.|1152;1152	.|Q14160;Q14160-3	.|SCRIB_HUMAN;.	V|C	147|1152;1152;1071;521	.|ENSP00000349486:R1152C;ENSP00000322938:R1152C;ENSP00000366756:R1071C	.|ENSP00000322938:R1152C	A|R	-|-	2|1	0|0	SCRIB|SCRIB	144957690|144957690	0.425000|0.425000	0.25498|0.25498	0.718000|0.718000	0.30602|0.30602	0.163000|0.163000	0.22366|0.22366	0.481000|0.481000	0.22260|0.22260	1.022000|1.022000	0.39626|0.39626	0.456000|0.456000	0.33151|0.33151	GCG|CGT		0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		21	34	0	0	0	0.007291	0	21	34		
MFSD3	113655	broad.mit.edu	37	8	145736235	145736235	+	Silent	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:145736235C>G	ENST00000301327.4	+	4	1274	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	338	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCACCACAGTCACCTTCACTG	0.642																																						uc003zdi.1		NaN																	0				central_nervous_system(2)	2						c.(1012-1014)GTC>GTG		major facilitator superfamily domain containing							51.0	50.0	50.0					8																	145736235		2202	4298	6500	SO:0001819	synonymous_variant	113655				transmembrane transport	integral to membrane		g.chr8:145736235C>G		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.1014C>G	8.37:g.145736235C>G							p.V338V	NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1179	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		338			Leu-rich.|Helical; (Potential).			Silent	SNP	ENST00000301327.4	37	c.1014C>G	CCDS6431.1																																																																																				0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		14	37	0	0	0	0.004007	0	14	37		
ZNF251	90987	broad.mit.edu	37	8	145979132	145979132	+	Silent	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr8:145979132C>T	ENST00000292562.7	-	4	488	c.213G>A	c.(211-213)aaG>aaA	p.K71K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	71	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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCAAAGTTCCTTCCCCTGCT	0.552																																						uc003zdv.3		NaN																	0					0						c.(211-213)AAG>AAA		zinc finger protein 251							45.0	45.0	45.0					8																	145979132		1958	4166	6124	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145979132C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.213G>A	8.37:g.145979132C>T							p.K71K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	4	469	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		71			KRAB.		Q2M219	Silent	SNP	ENST00000292562.7	37	c.213G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	2.131	-0.399143	0.04865	.	.	ENSG00000198169	ENST00000525191	.	.	.	2.85	-1.02	0.10135	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	-5.8898	3.1432	0.06462	0.1924:0.3632:0.0:0.4444	.	.	.	.	R	109	.	.	G	-	1	0	ZNF251	145949937	0.000000	0.05858	0.072000	0.20136	0.587000	0.36485	-1.709000	0.01890	-0.226000	0.09899	-0.152000	0.13540	GGA		0.552	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		NM_138367		7	13	0	0	0	0.008291	0	7	13		
FOXD4	2298	broad.mit.edu	37	9	117910	117910	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:117910G>A	ENST00000382500.2	-	1	507	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	70					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCCGCCCTCGATGTGCTCTC	0.716																																						uc003zfz.2		NaN																	0				skin(1)	1						c.(208-210)ATC>ATT		forkhead box D4							36.0	59.0	52.0					9																	117910		2191	4285	6476	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chr9:117910G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.210C>T	9.37:g.117910G>A							p.I70I	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	508	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	70					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.210C>T	CCDS34975.1																																																																																				0.716	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1		NM_207305		15	135	0	0	0	0.014323	0	15	135		
SMARCA2	6595	broad.mit.edu	37	9	2110327	2110327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:2110327C>G	ENST00000382203.1	+	24	3575	c.3366C>G	c.(3364-3366)ttC>ttG	p.F1122L	SMARCA2_ENST00000382194.1_Missense_Mutation_p.F1122L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.F1122L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.F1122L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1122	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATTTCATTTTCTTGCTGAGCA	0.463																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3364-3366)TTC>TTG		SWI/SNF-related matrix-associated							88.0	82.0	84.0					9																	2110327		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2110327C>G	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3366C>G	9.37:g.2110327C>G	ENSP00000371638:p.Phe1122Leu					SMARCA2_uc003zhd.2_Missense_Mutation_p.F1122L|SMARCA2_uc010mha.2_Missense_Mutation_p.F1055L	p.F1122L	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	24	3465	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1122			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3366C>G	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912805	0.52439	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.55	4.64	0.57946	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86573	0.5965	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.979	D;D;D	0.97110	1.0;0.969;0.982	D	0.87220	0.2253	10	0.87932	D	0	-22.1964	11.1374	0.48383	0.0:0.8366:0.0:0.1634	.	723;1122;1122	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	L	1122	ENSP00000265773:F1122L;ENSP00000349788:F1122L;ENSP00000371638:F1122L;ENSP00000371629:F1122L	ENSP00000265773:F1122L	F	+	3	2	SMARCA2	2100327	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	2.674000	0.46867	2.767000	0.95098	0.655000	0.94253	TTC		0.463	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		30	41	0	0	0	0.004878	0	30	41		
FAM154A	158297	broad.mit.edu	37	9	18928110	18928110	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:18928110G>A	ENST00000380534.4	-	4	1644	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	FAM154A_ENST00000542071.1_Silent_p.S263S|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	455										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CAGAAAGATGGCTGCTCTGCT	0.433																																						uc003zni.1		NaN																	0				pancreas(1)	1						c.(1363-1365)AGC>AGT		hypothetical protein LOC158297							79.0	83.0	82.0					9																	18928110		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18928110G>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.1365C>T	9.37:g.18928110G>A						FAM154A_uc010mip.1_Silent_p.S263S	p.S455S	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1643	-			455					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.1365C>T	CCDS6487.1																																																																																				0.433	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1		NM_153707		51	44	0	0	0	0.01441	0	51	44		
CNTNAP3	79937	broad.mit.edu	37	9	39178358	39178358	+	Splice_Site	SNP	C	C	G	rs557546106		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:39178358C>G	ENST00000297668.6	-	5	612		c.e5-1		CNTNAP3_ENST00000323947.7_Splice_Site|CNTNAP3_ENST00000377659.1_Splice_Site|CNTNAP3_ENST00000377653.2_Splice_Site|CNTNAP3_ENST00000358144.2_Splice_Site|CNTNAP3_ENST00000377656.2_Splice_Site	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3						cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCTCAGATTCTAGGAAAGAA	0.313																																						uc004abi.2		NaN																	0				ovary(1)	1						c.e5-1		cell recognition molecule CASPR3 precursor							58.0	68.0	65.0					9																	39178358		2180	4284	6464	SO:0001630	splice_region_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39178358C>G	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.539-1G>C	9.37:g.39178358C>G						CNTNAP3_uc004abj.2_Splice_Site_p.K180_splice|CNTNAP3_uc011lqr.1_Splice_Site|CNTNAP3_uc004abk.1_Splice_Site_p.K180_splice|CNTNAP3_uc011lqs.1_Splice_Site_p.K180_splice|CNTNAP3_uc004abl.1_Splice_Site_p.K92_splice	p.K180_splice	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	778	-								B1AMA0|Q9C0E9	Splice_Site	SNP	ENST00000297668.6	37	c.539_splice	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610843	0.46527	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1109	0.59273	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTNAP3	39168358	1.000000	0.71417	0.638000	0.29380	0.714000	0.41099	6.206000	0.72154	1.677000	0.50941	0.563000	0.77884	.		0.313	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1		NM_033655	Intron	32	34	0	0	0	0.010771	0	32	34		
GDA	9615	broad.mit.edu	37	9	74838100	74838100	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:74838100G>A	ENST00000358399.3	+	7	764	c.671G>A	c.(670-672)gGt>gAt	p.G224D	GDA_ENST00000238018.4_Missense_Mutation_p.G224D|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.G150D|GDA_ENST00000376989.3_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	224					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTTTGATGGGTGAACTGGGC	0.433																																						uc004aiq.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(670-672)GGT>GAT		guanine deaminase							191.0	173.0	179.0					9																	74838100		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74838100G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.671G>A	9.37:g.74838100G>A	ENSP00000351170:p.Gly224Asp					GDA_uc011lse.1_Missense_Mutation_p.G150D|GDA_uc011lsf.1_Missense_Mutation_p.G150D|GDA_uc004air.2_Missense_Mutation_p.G224D|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.G150D	p.G224D	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	7	854	+		Myeloproliferative disorder(762;0.0122)	224					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.671G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	7.028	0.560080	0.13498	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000358399;ENST00000414671	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.58	2.46	0.29980	Amidohydrolase 1 (1);	0.923805	0.09521	N	0.790909	T	0.73241	0.3562	N	0.02685	-0.53	0.24401	N	0.994701	B;B	0.13145	0.003;0.007	B;B	0.24848	0.004;0.056	T	0.61292	-0.7092	10	0.18276	T	0.48	0.0564	6.6928	0.23183	0.0799:0.1372:0.658:0.1248	.	224;224	Q9Y2T3-3;Q9Y2T3	.;GUAD_HUMAN	D	150;224;224;90	ENSP00000437972:G150D;ENSP00000238018:G224D;ENSP00000351170:G224D;ENSP00000403897:G90D	ENSP00000238018:G224D	G	+	2	0	GDA	74027920	0.034000	0.19679	0.830000	0.32933	0.846000	0.48090	0.513000	0.22770	0.688000	0.31529	0.655000	0.94253	GGT		0.433	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1				8	73	0	0	0	0.013537	0	8	73		
PRUNE2	158471	broad.mit.edu	37	9	79324197	79324197	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:79324197G>C	ENST00000376718.3	-	8	3116	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.S639*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	998					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCTTTTGACTCAAAACC	0.453																																						uc010mpk.2		NaN																	0					0						c.(2992-2994)TCA>TGA		prune homolog 2							138.0	113.0	121.0					9																	79324197		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324197G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2993C>G	9.37:g.79324197G>C	ENSP00000365908:p.Ser998*						p.S998*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	3117	-			998					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.2993C>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619358	0.87460	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	.	.	.	5.94	3.15	0.36227	.	0.741590	0.12025	N	0.506466	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.6444	4.0186	0.09655	0.3071:0.0:0.4981:0.1948	.	.	.	.	X	998;639;997	.	ENSP00000365908:S998X	S	-	2	0	PRUNE2	78514017	0.000000	0.05858	0.025000	0.17156	0.052000	0.14988	0.209000	0.17435	0.868000	0.35678	-0.254000	0.11334	TCA		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818		14	13	0	0	0	0.00245	0	14	13		
SLC28A3	64078	broad.mit.edu	37	9	86955491	86955491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:86955491G>A	ENST00000376238.4	-	1	107	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	20					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CTGCTCACCTGGAAGCCCACG	0.532																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(58-60)CAG>TAG		concentrative Na+-nucleoside cotransporter							143.0	126.0	132.0					9																	86955491		2203	4300	6503	SO:0001587	stop_gained	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86955491G>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.58C>T	9.37:g.86955491G>A	ENSP00000365413:p.Gln20*					SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Nonsense_Mutation_p.Q20*|SLC28A3_uc010mqb.2_5'UTR	p.Q20*	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			1	183	-			20			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	c.58C>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127282	0.77549	.	.	ENSG00000197506	ENST00000376238	.	.	.	4.44	4.44	0.53790	.	0.550372	0.15608	N	0.253552	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.4558	12.8907	0.58069	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000365413:Q20X	Q	-	1	0	SLC28A3	86145311	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	3.650000	0.54424	2.763000	0.94921	0.561000	0.74099	CAG		0.532	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		20	31	0	0	0	0.003954	0	20	31		
FAM120A	23196	broad.mit.edu	37	9	96259828	96259828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:96259828C>T	ENST00000277165.6	+	4	1074	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q294*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q294*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.Q294*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	294						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGCAACATTCAGGACACCTC	0.433																																						uc004atw.2		NaN																	0					0						c.(880-882)CAG>TAG		oxidative stress-associated Src activator							131.0	111.0	118.0					9																	96259828		2203	4300	6503	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96259828C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.880C>T	9.37:g.96259828C>T	ENSP00000277165:p.Gln294*					FAM120A_uc004atv.2_Nonsense_Mutation_p.Q294*|FAM120A_uc004atx.2_Nonsense_Mutation_p.Q76*|FAM120A_uc004aty.2_Nonsense_Mutation_p.Q76*	p.Q294*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			4	905	+			294					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.880C>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	36	5.748266	0.96882	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.	.	.	4.84	4.84	0.62591	.	0.094208	0.46145	D	0.000310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8279	18.1399	0.89636	0.0:1.0:0.0:0.0	.	.	.	.	X	294	.	ENSP00000277165:Q294X	Q	+	1	0	FAM120A	95299649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.864000	0.48404	2.509000	0.84616	0.563000	0.77884	CAG		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612		29	17	0	0	0	0.008361	0	29	17		
NIPSNAP3A	25934	broad.mit.edu	37	9	107521388	107521388	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:107521388G>C	ENST00000374767.4	+	5	708	c.603G>C	c.(601-603)gaG>gaC	p.E201D	NIPSNAP3A_ENST00000471001.1_3'UTR	NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	201						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						GGTGGAATGAGAGTGCAGATA	0.388																																						uc004bch.1		NaN																	0					0						c.(601-603)GAG>GAC		nipsnap homolog 3A							118.0	104.0	108.0					9																	107521388		2203	4298	6501	SO:0001583	missense	25934					cytosol		g.chr9:107521388G>C	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.603G>C	9.37:g.107521388G>C	ENSP00000363899:p.Glu201Asp					NIPSNAP3A_uc011lvt.1_Missense_Mutation_p.E201D|NIPSNAP3A_uc011lvu.1_Intron	p.E201D	NM_015469	NP_056284	Q9UFN0	NPS3A_HUMAN			5	708	+			201					A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	c.603G>C	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708445	0.30322	.	.	ENSG00000136783	ENST00000374767	T	0.69435	-0.4	4.11	3.21	0.36854	Dimeric alpha-beta barrel (1);	0.101696	0.64402	N	0.000003	T	0.53061	0.1773	L	0.45228	1.405	0.42629	D	0.993373	B;B	0.14805	0.011;0.011	B;B	0.18871	0.023;0.023	T	0.43163	-0.9408	10	0.18276	T	0.48	.	8.5176	0.33255	0.1788:0.0:0.8212:0.0	.	201;201	B4DW81;Q9UFN0	.;NPS3A_HUMAN	D	201	ENSP00000363899:E201D	ENSP00000363899:E201D	E	+	3	2	NIPSNAP3A	106561209	1.000000	0.71417	0.718000	0.30602	0.813000	0.45954	3.109000	0.50345	1.086000	0.41228	0.591000	0.81541	GAG		0.388	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1		NM_015469		5	9	0	0	0	0.001168	0	5	9		
TMEM38B	55151	broad.mit.edu	37	9	108457020	108457020	+	Missense_Mutation	SNP	C	C	G	rs11542697		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:108457020C>G	ENST00000374692.3	+	1	196	c.79C>G	c.(79-81)Cta>Gta	p.L27V		NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	27						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CGCGCACTATCTAGTGTCAGT	0.622																																						uc004bcu.1		NaN																	0				ovary(1)|skin(1)	2						c.(79-81)CTA>GTA		transmembrane protein 38B							100.0	83.0	89.0					9																	108457020		2203	4300	6503	SO:0001583	missense	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108457020C>G	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.79C>G	9.37:g.108457020C>G	ENSP00000363824:p.Leu27Val					TMEM38B_uc010mtn.1_Missense_Mutation_p.L27V	p.L27V	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			1	196	+			27			Lumenal (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	c.79C>G	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238840	0.22711	.	.	ENSG00000095209	ENST00000374692	T	0.42513	0.97	5.63	4.73	0.59995	.	0.324821	0.29876	N	0.010972	T	0.24928	0.0605	N	0.17474	0.49	0.80722	D	1	B	0.25441	0.126	B	0.24848	0.056	T	0.06463	-1.0825	10	0.15066	T	0.55	-7.8815	10.3191	0.43756	0.0:0.9095:0.0:0.0905	rs11542697;rs11542697	27	Q9NVV0	TM38B_HUMAN	V	27	ENSP00000363824:L27V	ENSP00000363824:L27V	L	+	1	2	TMEM38B	107496841	0.965000	0.33210	0.998000	0.56505	0.087000	0.18053	0.326000	0.19646	1.379000	0.46325	0.643000	0.83706	CTA		0.622	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1		NM_018112		32	71	0	0	0	0.009718	0	32	71		
AKAP2	11217	broad.mit.edu	37	9	112900730	112900730	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:112900730G>A	ENST00000259318.7	+	2	2420	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	AKAP2_ENST00000555236.1_Missense_Mutation_p.R969K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R969K|AKAP2_ENST00000434623.2_Missense_Mutation_p.R827K|AKAP2_ENST00000510514.5_Missense_Mutation_p.R969K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R969K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R827K|AKAP2_ENST00000482335.1_3'UTR	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	738										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGCTGAAGAGGCAGAGACAA	0.527																																						uc004bei.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3601-3603)AGG>AAG		A kinase (PRKA) anchor protein 2 isoform 2							87.0	81.0	83.0					9																	112900730		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900730G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2213G>A	9.37:g.112900730G>A	ENSP00000259318:p.Arg738Lys					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R779K|AKAP2_uc011lwi.1_Missense_Mutation_p.R827K|AKAP2_uc004bem.2_Missense_Mutation_p.R827K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R787K|AKAP2_uc011lwj.1_Missense_Mutation_p.R738K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R738K	p.R1201K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	3794	+			738			Potential.		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3602G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489349	0.64074	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.17	5.28	0.74379	.	0.096626	0.64402	D	0.000002	T	0.43743	0.1261	L	0.49350	1.555	0.36444	D	0.865695	D;D;B;D;D;B;B	0.67145	0.995;0.996;0.009;0.996;0.993;0.016;0.016	P;P;B;P;P;B;B	0.62813	0.695;0.907;0.011;0.907;0.81;0.041;0.041	T	0.50171	-0.8859	10	0.33940	T	0.23	-28.551	10.5428	0.45043	0.1448:0.0:0.8552:0.0	.	738;827;821;827;828;969;969	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.;.;.	K	969;969;969;969;827;827;738	ENSP00000363654:R969K;ENSP00000305861:R969K;ENSP00000451476:R969K;ENSP00000421522:R969K;ENSP00000404782:R827K;ENSP00000363649:R827K;ENSP00000259318:R738K	ENSP00000259318:R738K	R	+	2	0	PALM2-AKAP2;AKAP2	111940551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.613000	0.54152	1.620000	0.50308	0.655000	0.94253	AGG		0.527	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3		NM_001004065		11	45	0	0	0	0.001855	0	11	45		
FKBP15	23307	broad.mit.edu	37	9	115959352	115959352	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:115959352C>T	ENST00000238256.3	-	9	841	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	242	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ATTCCATCCTCCCAGCCCTTT	0.463																																						uc004bgs.2		NaN																	0				ovary(3)	3						c.(724-726)GAG>AAG		FK506 binding protein 15, 133kDa							124.0	119.0	120.0					9																	115959352		1881	4114	5995	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115959352C>T	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.724G>A	9.37:g.115959352C>T	ENSP00000238256:p.Glu242Lys					FKBP15_uc010muu.1_Missense_Mutation_p.E306K|FKBP15_uc011lxd.1_Missense_Mutation_p.E174K|FKBP15_uc010mut.1_Missense_Mutation_p.E110K|FKBP15_uc004bgt.2_Missense_Mutation_p.E242K	p.E242K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			9	842	-			242			PPIase FKBP-type.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.724G>A	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839943	0.91117	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.52983	0.64;0.64;0.64	5.48	4.58	0.56647	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	.	.	.	.	T	0.62429	0.2427	L	0.53671	1.685	0.42783	D	0.993876	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.997	T	0.65421	-0.6172	9	0.72032	D	0.01	-19.4046	11.984	0.53135	0.0:0.9157:0.0:0.0843	.	242;242;242	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	K	267;242;267	ENSP00000416158:E267K;ENSP00000238256:E242K;ENSP00000415733:E267K	ENSP00000238256:E242K	E	-	1	0	FKBP15	114999173	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.113000	0.77095	1.313000	0.45069	0.655000	0.94253	GAG		0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		27	89	0	0	0	0.003271	0	27	89		
COL27A1	85301	broad.mit.edu	37	9	117062947	117062947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:117062947C>T	ENST00000356083.3	+	51	5072	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1561	Collagen-like 15.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGGGCCCTCGGGGGCCACC	0.622																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(4681-4683)CGG>TGG		collagen, type XXVII, alpha 1 precursor							39.0	37.0	38.0					9																	117062947		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117062947C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4681C>T	9.37:g.117062947C>T	ENSP00000348385:p.Arg1561Trp					COL27A1_uc004bii.2_RNA	p.R1561W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			51	4681	+			1561			Collagen-like 15.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4681C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003862	0.74932	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93659	-3.26	5.4	4.44	0.53790	.	.	.	.	.	D	0.96741	0.8936	M	0.90019	3.08	0.37334	D	0.910088	D	0.89917	1.0	D	0.76071	0.987	D	0.97679	1.0171	9	0.72032	D	0.01	.	10.873	0.46894	0.2959:0.7041:0.0:0.0	.	1561	Q8IZC6	CORA1_HUMAN	W	1561	ENSP00000348385:R1561W	ENSP00000348385:R1561W	R	+	1	2	COL27A1	116102768	0.911000	0.30947	1.000000	0.80357	0.966000	0.64601	2.217000	0.42880	2.711000	0.92665	0.655000	0.94253	CGG		0.622	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		7	21	0	0	0	0.006214	0	7	21		
SPTAN1	6709	broad.mit.edu	37	9	131340465	131340465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:131340465G>T	ENST00000372731.4	+	9	1272	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E388*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E388*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	388					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAATGCAGATGAGCTTGCCAG	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(1162-1164)GAG>TAG		spectrin, alpha, non-erythrocytic 1							91.0	82.0	85.0					9																	131340465		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131340465G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1162G>T	9.37:g.131340465G>T	ENSP00000361816:p.Glu388*					SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E388*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E400*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E388*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E388*	p.E388*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			9	1275	+			388			Spectrin 5.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.1162G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	39	7.695740	0.98438	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9477	0.92628	0.0:0.0:1.0:0.0	.	.	.	.	X	388	.	ENSP00000350882:E388X	E	+	1	0	SPTAN1	130380286	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.476000	0.97823	2.706000	0.92434	0.563000	0.77884	GAG		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		21	40	1	0	5.61819e-17	0.005443	6.08353e-17	21	40		
FNBP1	23048	broad.mit.edu	37	9	132658267	132658267	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:132658267C>T	ENST00000446176.2	-	16	1882	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	FNBP1_ENST00000443566.2_Missense_Mutation_p.E194K|FNBP1_ENST00000355681.3_Missense_Mutation_p.E537K|FNBP1_ENST00000420781.1_Missense_Mutation_p.E557K	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	566	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATCGTTCCTTCATTCTGACCT	0.448			T	MLL	AML																																	uc004byw.1		NaN		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0					0						c.(1696-1698)GAA>AAA		formin binding protein 1							107.0	100.0	102.0					9																	132658267		1974	4156	6130	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132658267C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1696G>A	9.37:g.132658267C>T	ENSP00000413625:p.Glu566Lys					FNBP1_uc011mbv.1_Missense_Mutation_p.E556K|FNBP1_uc011mbw.1_Missense_Mutation_p.E561K|FNBP1_uc004bza.2_Missense_Mutation_p.E500K|FNBP1_uc004byz.1_Missense_Mutation_p.E537K|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Missense_Mutation_p.E194K|FNBP1_uc004byx.1_Missense_Mutation_p.E482K|FNBP1_uc004byy.1_Missense_Mutation_p.E472K	p.E566K	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	16	1915	-		Ovarian(14;0.000536)	566			Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.1696G>A	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.873516|4.873516	0.91664|0.91664	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681|ENST00000449089	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Src homology-3 domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82300|0.82300	0.5007|0.5007	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	B;D;D;D;P;D;P;D|.	0.89917|.	0.356;1.0;1.0;0.995;0.816;0.999;0.778;0.999|.	P;D;D;D;P;D;P;D|.	0.87578|.	0.549;0.996;0.998;0.967;0.666;0.997;0.55;0.991|.	D|D	0.84171|0.84171	0.0434|0.0434	10|5	0.87932|.	D|.	0|.	-44.6645|-44.6645	17.8863|17.8863	0.88855|0.88855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	561;556;194;500;537;517;561;566|.	B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;.;FNBP1_HUMAN|.	K|I	566;566;557;566;194;537|517	ENSP00000413625:E566K;ENSP00000407548:E557K;ENSP00000389117:E194K;ENSP00000347907:E537K|.	ENSP00000347907:E537K|.	E|M	-|-	1|3	0|0	FNBP1|FNBP1	131698088|131698088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	7.336000|7.336000	0.79245|0.79245	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.448	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2				23	61	0	0	0	0.010818	0	23	61		
LAMC3	10319	broad.mit.edu	37	9	133948634	133948634	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:133948634G>C	ENST00000361069.4	+	20	3553	c.3420G>C	c.(3418-3420)gaG>gaC	p.E1140D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1140	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTACAGGAGATTCCTCAGG	0.577																																						uc004caa.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(3418-3420)GAG>GAC		laminin, gamma 3 precursor							45.0	47.0	47.0					9																	133948634		2202	4300	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948634G>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.3420G>C	9.37:g.133948634G>C	ENSP00000354360:p.Glu1140Asp						p.E1140D	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	20	3518	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1140			Domain II and I.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3420G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233911	0.01505	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27557	1.66	4.23	2.34	0.29019	.	1.062570	0.07348	N	0.881870	T	0.20129	0.0484	L	0.29908	0.895	0.19300	N	0.999977	B	0.06786	0.001	B	0.06405	0.002	T	0.29150	-1.0021	10	0.10902	T	0.67	.	7.0621	0.25131	0.3017:0.0:0.6983:0.0	.	1140	Q9Y6N6	LAMC3_HUMAN	D	1140	ENSP00000354360:E1140D	ENSP00000347156:E1140D	E	+	3	2	LAMC3	132938455	0.649000	0.27322	0.213000	0.23690	0.032000	0.12392	0.471000	0.22100	1.113000	0.41760	0.555000	0.69702	GAG		0.577	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059		15	33	0	0	0	0.007413	0	15	33		
SARDH	1757	broad.mit.edu	37	9	136555522	136555522	+	Silent	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:136555522G>A	ENST00000371872.4	-	16	2306	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	SARDH_ENST00000439388.1_Silent_p.I683I|SARDH_ENST00000422262.2_Silent_p.I515I|SARDH_ENST00000371868.1_Silent_p.I111I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	683					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTGGATACTGATCATACCCA	0.652																																						uc004cep.3		NaN																	0					0						c.(2047-2049)ATC>ATT		sarcosine dehydrogenase precursor							60.0	58.0	59.0					9																	136555522		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136555522G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2049C>T	9.37:g.136555522G>A						SARDH_uc004ceo.2_Silent_p.I683I|SARDH_uc011mdn.1_Silent_p.I683I|SARDH_uc011mdo.1_Silent_p.I515I|SARDH_uc004cen.2_Silent_p.I111I	p.I683I	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	16	2183	-			683					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2049C>T	CCDS6978.1																																																																																				0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1				14	37	0	0	0	0.00499	0	14	37		
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(673-675)CAG>GAG		hypothetical protein LOC442444							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	687	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		5	52	0	0	0	0.001168	0	5	52		
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C	rs201507521		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(715-717)CCA>CCC		hypothetical protein LOC442444							48.0	46.0	47.0					X																	37027200		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027200A>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.717A>C	X.37:g.37027200A>C							p.P239P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	731	+			239					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.717A>C	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		3	49	0	0	0	0.004672	0	3	49		
JADE3	9767	broad.mit.edu	37	X	46913959	46913959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:46913959G>C	ENST00000218343.4	+	9	1670	c.1372G>C	c.(1372-1374)Gtg>Ctg	p.V458L	PHF16_ENST00000397189.1_Missense_Mutation_p.V458L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAATGGGCTGGTGCAGCCAAA	0.433																																						uc004dgx.2		NaN																	0					0						c.(1372-1374)GTG>CTG		PHD finger protein 16							29.0	29.0	29.0					X																	46913959		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913959G>C																												ENST00000218343.4:c.1372G>C	X.37:g.46913959G>C	ENSP00000218343:p.Val458Leu					PHF16_uc004dgy.2_Missense_Mutation_p.V458L	p.V458L	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			9	1423	+			458						Missense_Mutation	SNP	ENST00000218343.4	37	c.1372G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474717	0.26511	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.49720	0.77;0.77	5.14	2.27	0.28462	.	0.269401	0.36740	N	0.002438	T	0.32164	0.0820	L	0.27053	0.805	0.37874	D	0.930164	B	0.02656	0.0	B	0.04013	0.001	T	0.11036	-1.0604	10	0.45353	T	0.12	.	9.5732	0.39440	0.0753:0.2615:0.6633:0.0	.	458	Q92613	JADE3_HUMAN	L	458	ENSP00000380373:V458L;ENSP00000218343:V458L	ENSP00000218343:V458L	V	+	1	0	PHF16	46798903	1.000000	0.71417	0.003000	0.11579	0.764000	0.43329	3.770000	0.55310	0.107000	0.17824	0.600000	0.82982	GTG		0.433	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1				11	6	0	0	0	0.013537	0	11	6		
JADE3	9767	broad.mit.edu	37	X	46913971	46913971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:46913971G>T	ENST00000218343.4	+	9	1682	c.1384G>T	c.(1384-1386)Gag>Tag	p.E462*	PHF16_ENST00000397189.1_Nonsense_Mutation_p.E462*	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GCAGCCAAAAGAGGAAAGCAT	0.443																																						uc004dgx.2		NaN																	0					0						c.(1384-1386)GAG>TAG		PHD finger protein 16							28.0	28.0	28.0					X																	46913971		2203	4300	6503	SO:0001587	stop_gained	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913971G>T																												ENST00000218343.4:c.1384G>T	X.37:g.46913971G>T	ENSP00000218343:p.Glu462*					PHF16_uc004dgy.2_Nonsense_Mutation_p.E462*	p.E462*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			9	1435	+			462						Nonsense_Mutation	SNP	ENST00000218343.4	37	c.1384G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	40	8.334383	0.98764	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	.	.	.	5.14	5.14	0.70334	.	0.096756	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.9754	0.89126	0.0:0.0:1.0:0.0	.	.	.	.	X	462	.	ENSP00000218343:E462X	E	+	1	0	PHF16	46798915	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	9.219000	0.95173	2.265000	0.75225	0.600000	0.82982	GAG		0.443	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1				10	6	1	0	0.00010058	0.013537	0.000102687	10	6		
PHF8	23133	broad.mit.edu	37	X	54048789	54048789	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:54048789G>A	ENST00000357988.5	-	4	662	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	PHF8_ENST00000322659.8_Missense_Mutation_p.R66C|PHF8_ENST00000338946.6_Missense_Mutation_p.R66C|PHF8_ENST00000338154.6_Missense_Mutation_p.R66C	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	102	Linker.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GAAGATCCACGGCGTTTTTTC	0.493																																						uc004dsu.2		NaN																	0				ovary(3)	3						c.(304-306)CGT>TGT		PHD finger protein 8							120.0	105.0	110.0					X																	54048789		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54048789G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.304C>T	X.37:g.54048789G>A	ENSP00000350676:p.Arg102Cys					PHF8_uc004dst.2_Missense_Mutation_p.R66C|PHF8_uc004dsw.2_Missense_Mutation_p.R66C|PHF8_uc004dsy.2_Missense_Mutation_p.R66C	p.R102C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			4	377	-			102			Linker.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.304C>T	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127932	0.56721	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.26810	2.3;2.05;2.09;1.71;2.11;2.13;2.12;2.08;2.16;2.16	5.51	3.55	0.40652	Zinc finger, FYVE/PHD-type (1);	0.328809	0.26923	N	0.021803	T	0.37100	0.0991	M	0.71581	2.175	0.54753	D	0.999989	D;D	0.76494	0.999;0.996	P;B	0.52109	0.69;0.272	T	0.26224	-1.0109	10	0.59425	D	0.04	-0.8178	10.682	0.45819	0.0:0.0:0.6419:0.3581	.	66;102	B7Z911;Q9UPP1	.;PHF8_HUMAN	C	102;66;66;96;66;66;66;66;102;66;66	ENSP00000350676:R102C;ENSP00000338868:R66C;ENSP00000340051:R66C;ENSP00000319473:R66C;ENSP00000408113:R66C;ENSP00000398995:R66C;ENSP00000404117:R66C;ENSP00000405897:R102C;ENSP00000416546:R66C;ENSP00000410100:R66C	ENSP00000319473:R66C	R	-	1	0	PHF8	54065514	0.991000	0.36638	0.997000	0.53966	0.896000	0.52359	2.073000	0.41519	2.332000	0.79248	0.596000	0.82720	CGT		0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2		NM_015107		43	17	0	0	0	0.01441	0	43	17		
ATRX	546	broad.mit.edu	37	X	76814231	76814231	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:76814231G>A	ENST00000373344.5	-	29	6627	c.6413C>T	c.(6412-6414)tCt>tTt	p.S2138F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S2100F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2138	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGGATTCCAAGAAGCGTCGAA	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(6412-6414)TCT>TTT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						81.0	78.0	79.0					X																	76814231		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814231G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6413C>T	X.37:g.76814231G>A	ENSP00000362441:p.Ser2138Phe					ATRX_uc004ecq.3_Missense_Mutation_p.S2100F|ATRX_uc004eco.3_Missense_Mutation_p.S1923F	p.S2138F	NM_000489	NP_000480	P46100	ATRX_HUMAN			29	6645	-			2138			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6413C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421322	0.62622	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.76709	-1.04;-1.04	5.21	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.86928	0.6051	M	0.62266	1.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88429	0.3034	10	0.87932	D	0	-5.6082	17.8291	0.88676	0.0:0.0:1.0:0.0	.	2100;2138	P46100-4;P46100	.;ATRX_HUMAN	F	2138;2100	ENSP00000362441:S2138F;ENSP00000378967:S2100F	ENSP00000362441:S2138F	S	-	2	0	ATRX	76700887	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.141000	0.66446	0.600000	0.82982	TCT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		47	22	0	0	0	0.01441	0	47	22		
TENM1	10178	broad.mit.edu	37	X	123657408	123657408	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:123657408C>G	ENST00000371130.3	-	17	2902	c.2839G>C	c.(2839-2841)Gag>Cag	p.E947Q	TENM1_ENST00000422452.2_Missense_Mutation_p.E947Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	947					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTTCTCTTCTCAGGCAGGAAA	0.468																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(2839-2841)GAG>CAG		odz, odd Oz/ten-m homolog 1 isoform 3							115.0	96.0	102.0					X																	123657408		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123657408C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2839G>C	X.37:g.123657408C>G	ENSP00000360171:p.Glu947Gln					ODZ1_uc011muj.1_Missense_Mutation_p.E946Q|ODZ1_uc010nqy.2_Missense_Mutation_p.E947Q	p.E947Q	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			17	2903	-			947			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2839G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	7.891	0.732254	0.15507	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.12672	2.66;2.66	5.79	5.79	0.91817	.	0.057989	0.64402	D	0.000001	T	0.04497	0.0123	N	0.00611	-1.325	0.40224	D	0.977779	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.003	T	0.36261	-0.9755	10	0.02654	T	1	.	19.0488	0.93034	0.0:1.0:0.0:0.0	.	946;947;947	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	947	ENSP00000360171:E947Q;ENSP00000403954:E947Q	ENSP00000360171:E947Q	E	-	1	0	ODZ1	123485089	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.317000	0.51968	2.448000	0.82819	0.600000	0.82982	GAG		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		39	5	0	0	0	0.01441	0	39	5		
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:152083818_152083820delCGG	ENST00000368804.1	-	2	1872_1874	c.1873_1875delCCG	c.(1873-1875)ccgdel	p.P625del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	625	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.68																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1873-1875)CCGdel		trichohyalin				31,3701		4,23,1839						2.7	0.6			38	95,7801		7,81,3860	no	coding	TCHH	NM_007113.2		11,104,5699	A1A1,A1R,RR		1.2031,0.8307,1.0836				126,11502				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083818_152083820delCGG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1873_1875delCCG	1.37:g.152083818_152083820delCGG	ENSP00000357794:p.Pro625del					TCHH_uc009wne.1_In_Frame_Del_p.P625del	p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1873_1875	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		625			9 X 28 AA approximate tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.1873_1875delCCG	CCDS41396.1																																																																																				0.680	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		8	184	NaN	NaN	NaN	NaN	NaN	8	184	---	---
DAP3	7818	broad.mit.edu	37	1	155698864	155698867	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr1:155698864_155698867delAGAG	ENST00000368336.5	+	8	759_762	c.635_638delAGAG	c.(634-639)aagagafs	p.KR212fs	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Frame_Shift_Del_p.KR171fs|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Frame_Shift_Del_p.KR212fs|DAP3_ENST00000471642.2_Frame_Shift_Del_p.KR171fs|DAP3_ENST00000421487.2_Frame_Shift_Del_p.KR178fs	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	212					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)			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)					GTCTGGAATAAGAGAGAAAGCACT	0.397																																						uc001flq.2		NaN																	0				ovary(1)	1						c.(634-639)AAGAGAfs		death-associated protein 3																																				SO:0001589	frameshift_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155698864_155698867delAGAG	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.635_638delAGAG	1.37:g.155698864_155698867delAGAG	ENSP00000357320:p.Lys212fs					DAP3_uc001flr.2_Frame_Shift_Del_p.K212fs|DAP3_uc001fls.2_Frame_Shift_Del_p.K212fs|DAP3_uc010pgl.1_Frame_Shift_Del_p.K171fs|DAP3_uc001flt.2_Frame_Shift_Del_p.K178fs|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Frame_Shift_Del_p.K178fs	p.K212fs	NM_033657	NP_387506	P51398	RT29_HUMAN			8	804_807	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		212_213					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Frame_Shift_Del	DEL	ENST00000368336.5	37	c.635_638delAGAG	CCDS1120.1																																																																																				0.397	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1		NM_004632		9	61	NaN	NaN	NaN	NaN	NaN	9	61	---	---
LTB4R2	56413	broad.mit.edu	37	14	24780721	24780722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr14:24780721_24780722insC	ENST00000528054.1	+	1	2561_2562	c.944_945insC	c.(943-948)aacccgfs	p.NP315fs	CIDEB_ENST00000258807.5_5'Flank|CIDEB_ENST00000555817.1_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000533293.1_Frame_Shift_Ins_p.NP284fs|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000543919.1_Frame_Shift_Ins_p.NP284fs			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	315					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		TCTAGCGTCAACCCGGTGCTCT	0.698																																						uc001woq.1		NaN																	0					0						c.(943-945)AACfs		leukotriene B4 receptor 2																																				SO:0001589	frameshift_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780721_24780722insC	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.947dupC	14.37:g.24780724_24780724dupC	ENSP00000432146:p.Asn315fs					CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc010alo.2_Frame_Shift_Ins_p.N284fs|LTB4R2_uc001wor.2_Frame_Shift_Ins_p.N284fs|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank	p.N315fs	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2561_2562	+			315			Helical; Name=7; (Potential).		Q5KU28|Q9NPE5	Frame_Shift_Ins	INS	ENST00000528054.1	37	c.944_945insC																																																																																					0.698	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4				21	54	NaN	NaN	NaN	NaN	NaN	21	54	---	---
NPTN	27020	broad.mit.edu	37	15	73866075	73866080	+	In_Frame_Del	DEL	AGTGGC	AGTGGC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr15:73866075_73866080delAGTGGC	ENST00000345330.4	-	5	960_965	c.763_768delGCCACT	c.(763-768)gccactdel	p.AT255del	NPTN_ENST00000562924.1_In_Frame_Del_p.AT139del|NPTN_ENST00000545878.1_In_Frame_Del_p.AT255del|NPTN_ENST00000542234.1_In_Frame_Del_p.AT50del|NPTN_ENST00000287226.8_In_Frame_Del_p.AT255del|NPTN_ENST00000563691.1_In_Frame_Del_p.AT255del|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000351217.6_In_Frame_Del_p.AT139del	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	255	Ig-like 3.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGCAATACATAGTGGCATCCTGCCCT	0.549																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	uc002avs.2		NaN																	0					0						c.(763-768)GCCACTdel		neuroplastin isoform b precursor																																				SO:0001651	inframe_deletion	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73866075_73866080delAGTGGC	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.763_768delGCCACT	15.37:g.73866075_73866080delAGTGGC	ENSP00000290401:p.Ala255_Thr256del					NPTN_uc010bjc.2_In_Frame_Del_p.AT255del|NPTN_uc002avt.2_In_Frame_Del_p.AT139del|NPTN_uc002avr.2_In_Frame_Del_p.AT139del|NPTN_uc010ula.1_In_Frame_Del_p.AT50del	p.AT255del	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN			5	960_965	-			255_256			Ig-like 3.|Extracellular (Potential).		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	In_Frame_Del	DEL	ENST00000345330.4	37	c.763_768delGCCACT	CCDS10249.1																																																																																				0.549	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1		NM_012428		26	96	NaN	NaN	NaN	NaN	NaN	26	96	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del|ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NaN																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(3298-3303)GGGCTG>GGG		integrin alpha L isoform a precursor	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_uc002dyj.3_In_Frame_Del_p.L1022del|ITGAL_uc010vev.1_In_Frame_Del_p.L340del	p.L1106del	NM_002209	NP_002200	P20701	ITAL_HUMAN			30	3476_3478	+			1106			Helical; (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2				12	719	NaN	NaN	NaN	NaN	NaN	12	719	---	---
SRCAP	10847	broad.mit.edu	37	16	30736314	30736314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr16:30736314delC	ENST00000262518.4	+	25	5954	c.5569delC	c.(5569-5571)cccfs	p.P1858fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1700fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1796fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1858	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCGCTCTGGTCCCCCCAGCCC	0.612																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(5569-5571)CCCfs		Snf2-related CBP activator protein							108.0	114.0	112.0					16																	30736314		2197	4300	6497	SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736314delC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5569delC	16.37:g.30736314delC	ENSP00000262518:p.Pro1858fs					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1652fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.P1427fs	p.P1857fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5954	+			1857			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.5569delC	CCDS10689.2																																																																																				0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		7	972	NaN	NaN	NaN	NaN	NaN	7	972	---	---
A1BG	1	broad.mit.edu	37	19	58864380	58864381	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr19:58864380_58864381delCC	ENST00000263100.3	-	3	314_315	c.253_254delGG	c.(253-255)ggtfs	p.G85fs	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	85	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CTGGGTGTCACCCGTCAGCAGG	0.634																																						uc002qsd.3		NaN																	0					0						c.(253-255)GGTfs		alpha 1B-glycoprotein precursor																																				SO:0001589	frameshift_variant	1					extracellular region		g.chr19:58864380_58864381delCC		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.253_254delGG	19.37:g.58864380_58864381delCC	ENSP00000263100:p.Gly85fs					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	p.G85fs	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	315_316	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	85			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Frame_Shift_Del	DEL	ENST00000263100.3	37	c.253_254delGG	CCDS12976.1																																																																																				0.634	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1		NM_130786		16	67	NaN	NaN	NaN	NaN	NaN	16	67	---	---
IL17RC	84818	broad.mit.edu	37	3	9974358	9974360	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr3:9974358_9974360delTCC	ENST00000295981.3	+	17	1885_1887	c.1667_1669delTCC	c.(1666-1671)atcctc>atc	p.L559del	IL17RC_ENST00000455057.1_In_Frame_Del_p.L456del|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_In_Frame_Del_p.L488del|CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000413608.1_In_Frame_Del_p.L488del|IL17RC_ENST00000383812.4_In_Frame_Del_p.L473del|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_In_Frame_Del_p.L327del|CRELD1_ENST00000452070.1_5'Flank	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	559					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTCCCTCATCCTCCTTCTCAA	0.591											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bua.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1666-1671)ATCCTC>ATC		interleukin 17 receptor C isoform 1 precursor																																				SO:0001651	inframe_deletion	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974358_9974360delTCC	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1667_1669delTCC	3.37:g.9974361_9974363delTCC	ENSP00000295981:p.Leu559del		OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_In_Frame_Del_p.L488del|IL17RC_uc011atp.1_In_Frame_Del_p.L327del|IL17RC_uc003bud.2_In_Frame_Del_p.L29del|IL17RC_uc003bub.2_In_Frame_Del_p.L473del|IL17RC_uc010hct.2_In_Frame_Del_p.L488del|IL17RC_uc010hcu.2_In_Frame_Del_p.L471del|IL17RC_uc010hcv.2_In_Frame_Del_p.L456del|IL17RC_uc011atq.1_In_Frame_Del_p.L473del|IL17RC_uc003buc.2_In_Frame_Del_p.L29del|IL17RC_uc003bue.2_In_Frame_Del_p.L124del|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	p.L559del	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			17	1903_1905	+			559			Helical; (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	In_Frame_Del	DEL	ENST00000295981.3	37	c.1667_1669delTCC	CCDS2590.1																																																																																				0.591	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732		54	189	NaN	NaN	NaN	NaN	NaN	54	189	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86349960	86349963	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:86349960_86349963delTCCT	ENST00000369622.3	-	4	851_854	c.351_354delAGGA	c.(349-354)aaaggafs	p.KG117fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Del_p.KG117fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	117					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCTCATCTGGTCCTTTACTAGAAT	0.348																																						uc003pla.2		NaN																	0				ovary(2)	2						c.(349-354)AAAGGAfs		synaptotagmin binding, cytoplasmic RNA																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86349960_86349963delTCCT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.351_354delAGGA	6.37:g.86349960_86349963delTCCT	ENSP00000358635:p.Lys117fs					SYNCRIP_uc003pku.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkw.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pky.2_Frame_Shift_Del_p.K19fs|SYNCRIP_uc003pkv.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkx.2_5'UTR|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.K117fs	p.K117fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	4	892_895	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	117_118					E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Del	DEL	ENST00000369622.3	37	c.351_354delAGGA	CCDS5005.1																																																																																				0.348	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1		NM_006372		18	122	NaN	NaN	NaN	NaN	NaN	18	122	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762134	130762134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:130762134delG	ENST00000296978.3	+	3	1438	c.567delG	c.(565-567)atgfs	p.M189fs	TMEM200A_ENST00000392429.1_Frame_Shift_Del_p.M189fs|TMEM200A_ENST00000545622.1_Frame_Shift_Del_p.M189fs	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	189						integral component of membrane (GO:0016021)		p.M189I(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)		CTGGTTTGATGGGAGAAACAG	0.448																																						uc003qca.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(565-567)ATGfs		transmembrane protein 200A							95.0	88.0	90.0					6																	130762134		2203	4300	6503	SO:0001589	frameshift_variant	114801					integral to membrane		g.chr6:130762134delG	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.567delG	6.37:g.130762134delG	ENSP00000296978:p.Met189fs					TMEM200A_uc010kfh.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc010kfi.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc003qcb.2_Frame_Shift_Del_p.M189fs	p.M189fs	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1438	+			189			Cytoplasmic (Potential).		Q96PX5	Frame_Shift_Del	DEL	ENST00000296978.3	37	c.567delG	CCDS5140.1																																																																																				0.448	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913		9	60	NaN	NaN	NaN	NaN	NaN	9	60	---	---
PDE10A	10846	broad.mit.edu	37	6	165806238	165806240	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr6:165806238_165806240delTTC	ENST00000366882.1	-	17	1675_1677	c.1521_1523delGAA	c.(1519-1524)aagaac>aac	p.K507del	PDE10A_ENST00000539869.2_In_Frame_Del_p.K517del|PDE10A_ENST00000354448.4_In_Frame_Del_p.K507del			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	507					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCGCCGATAGTTCTTCTTCACAG	0.409																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NaN																	0				ovary(3)|skin(2)	5						c.(1519-1524)AAGAAC>AAC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)																																			SO:0001651	inframe_deletion	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806238_165806240delTTC	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1521_1523delGAA	6.37:g.165806244_165806246delTTC	ENSP00000355847:p.Lys507del					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_In_Frame_Del_p.K437del|PDE10A_uc003quo.2_In_Frame_Del_p.K517del	p.K507del	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1762_1764	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	507					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	In_Frame_Del	DEL	ENST00000366882.1	37	c.1521_1523delGAA																																																																																					0.409	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1				14	96	NaN	NaN	NaN	NaN	NaN	14	96	---	---
DLX6	1750	broad.mit.edu	37	7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)cacdel	p.H91del	DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729																																						uc003uom.2		NaN																	0				ovary(2)	2						c.(172-174)CACdel		distal-less homeobox 6				63,3,2684		10,0,43,0,3,1319						-4.9	0.2			10	115,3,5884		8,1,98,0,2,2892	no	codingComplex	DLX6	NM_005222.3		18,1,141,0,5,4211	A1A1,A1A2,A1R,A2A2,A2R,RR		1.966,2.4,2.1024				178,6,8568				SO:0001651	inframe_deletion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635545_96635547delCAC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.256_258delCAC	7.37:g.96635554_96635556delCAC	ENSP00000428480:p.His91del					DLX6AS_uc003uok.2_5'Flank|DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	p.H63del	NM_005222	NP_005213	P56179	DLX6_HUMAN			2	172_174	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		Error:Variant_position_missing_in_P56179_after_alignment					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	ENST00000518156.2	37	c.172_174delCAC	CCDS47647.2																																																																																				0.729	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4		NM_005222		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs60594151	byFrequency	TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													A|AA|A|insertion	1839	0.367212	0.4402	0.3473	5008	,	,		16407	0.4206		0.2942	False		,,,				2504	0.3027					uc010lpk.2		NaN																	0					0						c.e81+2		SCO-spondin precursor				1497,2307		384,729,789	5.0	7.0	6.0			1.8	0.2	7	dbSNP_132	8	2537,5339		482,1573,1883	no	frameshift	SSPO	NM_198455.2		866,2302,2672	A1A1,A1R,RR		32.2118,39.3533,34.5377			149515189	4034,7646	1638	3723	5361			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515189delA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515189delA							p.E3859_splice	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		81	11577	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	Splice_Site	DEL	ENST00000378016.2	37	c.11577_splice																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					4	7	NaN	NaN	NaN	NaN	NaN	4	7	---	---
KANK1	23189	broad.mit.edu	37	9	713382	713383	+	Frame_Shift_Del	DEL	TA	TA	-	rs144413163		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:713382_713383delTA	ENST00000382303.1	+	7	3268_3269	c.2616_2617delTA	c.(2614-2619)tctatcfs	p.I873fs	KANK1_ENST00000382293.3_Frame_Shift_Del_p.I715fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.I873fs|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	873					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCCTGTCGTCTATCAACTCTGT	0.515																																						uc003zgl.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2614-2619)TCTATCfs		KN motif and ankyrin repeat domains 1 isoform a																																				SO:0001589	frameshift_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713382_713383delTA	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2616_2617delTA	9.37:g.713382_713383delTA	ENSP00000371740:p.Ile873fs					KANK1_uc003zgm.2_Frame_Shift_Del_p.S872fs|KANK1_uc003zgn.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgo.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgp.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgq.2_Frame_Shift_Del_p.S714fs|KANK1_uc003zgr.1_Frame_Shift_Del_p.S714fs|KANK1_uc003zgs.1_Frame_Shift_Del_p.S714fs	p.S872fs	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3265_3266	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	872_873					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Frame_Shift_Del	DEL	ENST00000382303.1	37	c.2616_2617delTA	CCDS34976.1																																																																																				0.515	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2		NM_015158		29	58	NaN	NaN	NaN	NaN	NaN	29	58	---	---
DDX58	23586	broad.mit.edu	37	9	32487490	32487493	+	Frame_Shift_Del	DEL	CTTG	CTTG	-			TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chr9:32487490_32487493delCTTG	ENST00000379883.2	-	9	1508_1511	c.1351_1354delCAAG	c.(1351-1356)caagttfs	p.QV451fs	DDX58_ENST00000542096.1_Frame_Shift_Del_p.QV380fs|DDX58_ENST00000545044.1_Frame_Shift_Del_p.QV248fs|DDX58_ENST00000379868.1_Frame_Shift_Del_p.QV248fs|DDX58_ENST00000379882.1_Frame_Shift_Del_p.QV406fs	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	451	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTATAAACAACTTGCTCCAGTTCC	0.422																																						uc003zra.2		NaN																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(1351-1356)CAAGTTfs		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide																																				SO:0001589	frameshift_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32487490_32487493delCTTG	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1351_1354delCAAG	9.37:g.32487490_32487493delCTTG	ENSP00000369213:p.Gln451fs					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Frame_Shift_Del_p.Q406fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.Q248fs|DDX58_uc010mji.2_Frame_Shift_Del_p.Q380fs	p.Q451fs	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	9	1509_1512	-			451_452					A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Frame_Shift_Del	DEL	ENST00000379883.2	37	c.1351_1354delCAAG	CCDS6526.1																																																																																				0.422	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1		NM_014314		8	91	NaN	NaN	NaN	NaN	NaN	8	91	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-G2-A3IE-01A-11D-A20D-08	TCGA-G2-A3IE-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebacd09f-c204-4cd2-a087-07bc4f2c5b74	4ea5600d-3af7-4258-ad2c-79b6f9850377	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1654-1656)CCTdel		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P553del	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		7	344	NaN	NaN	NaN	NaN	NaN	7	344	---	---
