#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCSK5	5125	broad.mit.edu	37	9	78790173	78790173	+	Intron	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:78790173G>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.W676*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatggaatggaatgg	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2026-2028)tgG>tgA		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790173G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+128G>A	9.37:g.78790173G>A						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.W676*			Q92824	PCSK5_HUMAN			14	2540	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Nonsense_Mutation	SNP	ENST00000545128.1	37	c.2028G>A	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	36|36	5.622969|5.622969	0.96660|0.96660	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000396108|ENST00000376767	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28896|.	0.0717|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31336|.	-0.9947|.	4|.	0.66056|0.56958	D|D	0.02|0.05	.|.	2.6487|2.6487	0.04992|0.04992	0.5:0.0:0.5:0.0|0.5:0.0:0.5:0.0	.|.	.|.	.|.	.|.	K|X	675|676	.|.	ENSP00000379415:E675K|ENSP00000365958:W676X	E|W	+|+	1|3	0|0	PCSK5|PCSK5	77979993|77979993	0.022000|0.022000	0.18835|0.18835	0.119000|0.119000	0.21687|0.21687	0.120000|0.120000	0.20174|0.20174	-0.197000|-0.197000	0.09518|0.09518	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	GAA|TGG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	3	0	0	0	1	0	3	3				
IL22RA1	58985	broad.mit.edu	37	1	24463651	24463651	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:24463651T>A	ENST00000270800.1	-	3	363	c.325A>T	c.(325-327)Atg>Ttg	p.M109L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	109	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTGTCAGTCATCTTGGTGGCT	0.622																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(325-327)Atg>Ttg		interleukin 22 receptor, alpha 1							57.0	53.0	54.0					1																	24463651		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24463651T>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.325A>T	1.37:g.24463651T>A	ENSP00000270800:p.Met109Leu						p.M109L	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	3	363	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	109			Fibronectin type-III 1.		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.325A>T	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665669	0.29604	.	.	ENSG00000142677	ENST00000270800	T	0.39787	1.06	5.2	2.86	0.33363	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.695186	0.13374	N	0.392689	T	0.27134	0.0665	L	0.38175	1.15	0.28159	N	0.929089	B;B	0.22909	0.077;0.037	B;B	0.19391	0.025;0.013	T	0.26538	-1.0100	10	0.08381	T	0.77	-30.8789	6.9264	0.24418	0.0:0.1902:0.0:0.8098	.	1;109	B4E2V9;Q8N6P7	.;I22R1_HUMAN	L	109	ENSP00000270800:M109L	ENSP00000270800:M109L	M	-	1	0	IL22RA1	24336238	0.209000	0.23505	1.000000	0.80357	0.728000	0.41692	0.826000	0.27407	0.833000	0.34828	0.533000	0.62120	ATG		0.622	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			6	35	0	0	0	1	0	6	35				
SIRPB2	284759	broad.mit.edu	37	20	1459088	1459088	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:1459088T>G	ENST00000359801.3	-	3	652	c.616A>C	c.(616-618)Aac>Cac	p.N206H	SIRPB2_ENST00000444444.2_Missense_Mutation_p.N108H|SIRPB2_ENST00000537284.1_Missense_Mutation_p.N68H|SIRPB2_ENST00000608747.1_5'UTR	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	79	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCCAAAGTTGTAAATGGCC	0.567																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(616-618)Aac>Cac		signal-regulatory protein beta 2							89.0	81.0	84.0					20																	1459088		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1459088T>G	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.616A>C	20.37:g.1459088T>G	ENSP00000352849:p.Asn206His					SIRPB2_ENST00000537284.1_Missense_Mutation_p.N68H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.N108H|SIRPB2_ENST00000444444.1_Missense_Mutation_p.N108H	p.N206H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			3	652	-			206			Ig-like V-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.616A>C	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368224	0.61513	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000537284;ENST00000381630;ENST00000381628	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.05	4.05	0.47172	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.586383	0.16278	N	0.221491	T	0.40862	0.1134	M	0.64170	1.965	0.26139	N	0.980301	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.992	T	0.11084	-1.0602	10	0.62326	D	0.03	-11.5143	9.5744	0.39447	0.0:0.0:0.0:1.0	.	68;108;206	F5H204;E9PCW6;Q5JXA9	.;.;SIRB2_HUMAN	H	206;108;68;108;108	ENSP00000352849:N206H;ENSP00000402438:N108H;ENSP00000445632:N68H;ENSP00000371043:N108H	ENSP00000352849:N206H	N	-	1	0	SIRPB2	1407088	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.011000	0.40922	1.843000	0.53566	0.459000	0.35465	AAC		0.567	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		3	41	0	0	0	1	0	3	41				
LRRC4C	57689	broad.mit.edu	37	11	40135934	40135934	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:40135934C>G	ENST00000278198.2	-	2	3872	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	637					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGAGTCTCTTGTACATTG	0.318																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1909-1911)Gag>Cag		leucine rich repeat containing 4C							81.0	75.0	77.0					11																	40135934		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40135934C>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1909G>C	11.37:g.40135934C>G	ENSP00000278198:p.Glu637Gln					LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q	p.E637Q			Q9HCJ2	LRC4C_HUMAN			2	3872	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	637					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1909G>C	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438289	0.62955	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63769	-0.6562	10	0.72032	D	0.01	.	19.7224	0.96148	0.0:1.0:0.0:0.0	.	637	Q9HCJ2	LRC4C_HUMAN	Q	637	ENSP00000278198:E637Q;ENSP00000436976:E637Q;ENSP00000437132:E637Q;ENSP00000434761:E637Q	ENSP00000278198:E637Q	E	-	1	0	LRRC4C	40092510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAG		0.318	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		6	47	0	0	0	1	0	6	47				
IPO5	3843	broad.mit.edu	37	13	98658459	98658459	+	Missense_Mutation	SNP	G	G	A	rs632729		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:98658459G>A	ENST00000490680.1	+	14	1638	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.E400K|IPO5_ENST00000261574.5_Missense_Mutation_p.E543K			O00410	IPO5_HUMAN	importin 5	525			E -> K (in dbSNP:rs632729).		cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TACTGCAGAAGAAAAATTTGT	0.383																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1627-1629)Gaa>Aaa		importin 5							138.0	134.0	135.0					13																	98658459		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658459G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1573G>A	13.37:g.98658459G>A	ENSP00000418393:p.Glu525Lys					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.E525K|IPO5_ENST00000539640.1_Missense_Mutation_p.E400K	p.E543K	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1807	+			525					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1627G>A		.	.	.	.	.	.	.	.	.	.	G	17.34	3.365559	0.61513	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.1	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	N	0.13140	0.3	0.80722	D	1	B;B;B	0.30563	0.11;0.188;0.285	B;B;B	0.28553	0.074;0.042;0.091	T	0.11275	-1.0594	10	0.27785	T	0.31	0.2134	13.5919	0.61966	0.0758:0.0:0.9242:0.0	rs632729;rs632729	400;525;543	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	K	543;525;525;400	ENSP00000261574:E543K;ENSP00000350219:E525K;ENSP00000418393:E525K;ENSP00000445126:E400K	ENSP00000261574:E543K	E	+	1	0	IPO5	97456460	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.711000	0.98735	1.265000	0.44215	0.460000	0.39030	GAA		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		11	89	0	0	0	1	0	11	89				
MYH8	4626	broad.mit.edu	37	17	10297616	10297616	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:10297616C>T	ENST00000403437.2	-	35	5210	c.5116G>A	c.(5116-5118)Gaa>Aaa	p.E1706K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1706					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTCCTGTTCGGCGATTTTC	0.562									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5116-5118)Gaa>Aaa		myosin, heavy chain 8, skeletal muscle, perinatal							130.0	115.0	120.0					17																	10297616		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297616C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5116G>A	17.37:g.10297616C>T	ENSP00000384330:p.Glu1706Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1706K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			35	5210	-			1706					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5116G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007680	0.93287	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86230	-2.09	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.41938	U	0.000797	D	0.96125	0.8737	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.97526	1.0076	10	0.87932	D	0	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	1706	P13535	MYH8_HUMAN	K	1706	ENSP00000384330:E1706K	ENSP00000252173:E1706K	E	-	1	0	MYH8	10238341	1.000000	0.71417	0.561000	0.28357	0.700000	0.40528	7.609000	0.82925	2.632000	0.89209	0.650000	0.86243	GAA		0.562	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	55	0	0	0	1	0	13	55				
DNAH5	1767	broad.mit.edu	37	5	13792168	13792168	+	Nonsense_Mutation	SNP	G	G	A	rs560398270		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:13792168G>A	ENST00000265104.4	-	50	8487	c.8383C>T	c.(8383-8385)Cga>Tga	p.R2795*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2795	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGATCTCGTAGGTTAAAC	0.418									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		16000	0.0		0.0	False		,,,				2504	0.001					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8383-8385)Cga>Tga		dynein, axonemal, heavy chain 5							94.0	92.0	92.0					5																	13792168		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13792168G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8383C>T	5.37:g.13792168G>A	ENSP00000265104:p.Arg2795*						p.R2795*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			50	8487	-	Lung NSC(4;0.00476)		2795			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.8383C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	50	17.287565	0.99883	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3687	0.60701	0.0:0.0:0.5944:0.4056	.	.	.	.	X	2795	.	ENSP00000265104:R2795X	R	-	1	2	DNAH5	13845168	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.346000	0.33964	1.441000	0.47550	-0.182000	0.12963	CGA		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	47	0	0	0	1	0	4	47				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	56	0	0	0	1	0	3	56				
CRLF3	51379	broad.mit.edu	37	17	29119578	29119578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:29119578C>T	ENST00000324238.6	-	6	963	c.839G>A	c.(838-840)gGt>gAt	p.G280D	CRLF3_ENST00000544695.1_Missense_Mutation_p.G164D|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	280					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCCCTCAAAACCAGCTGTCCA	0.403																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(838-840)gGt>gAt		cytokine receptor-like factor 3							124.0	122.0	123.0					17																	29119578		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29119578C>T	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.839G>A	17.37:g.29119578C>T	ENSP00000318804:p.Gly280Asp					CRLF3_ENST00000544695.1_Missense_Mutation_p.G164D|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	p.G280D	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			6	963	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	280					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.839G>A	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724381	0.89298	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.27256	1.68;1.68	5.16	5.16	0.70880	.	0.044588	0.85682	D	0.000000	T	0.49304	0.1549	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.43925	-0.9361	10	0.45353	T	0.12	-17.8025	18.6225	0.91326	0.0:1.0:0.0:0.0	.	280	Q8IUI8	CRLF3_HUMAN	D	280;164	ENSP00000318804:G280D;ENSP00000444188:G164D	ENSP00000318804:G280D	G	-	2	0	CRLF3	26143704	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.420000	0.80191	2.365000	0.80145	0.591000	0.81541	GGT		0.403	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			14	78	0	0	0	1	0	14	78				
FAM183A	440585	broad.mit.edu	37	1	43621899	43621899	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:43621899G>A	ENST00000335282.4	+	4	320	c.320G>A	c.(319-321)cGc>cAc	p.R107H	FAM183A_ENST00000410048.1_Missense_Mutation_p.R79H|FAM183A_ENST00000409337.1_3'UTR	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	107										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CGCCATGACCGCAGGCTGAAT	0.527																																						ENST00000410048.1																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						c.(235-237)cGc>cAc		family with sequence similarity 183, member A							142.0	139.0	140.0					1																	43621899		2000	4182	6182	SO:0001583	missense	440585							g.chr1:43621899G>A	AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.320G>A	1.37:g.43621899G>A	ENSP00000334415:p.Arg107His					FAM183A_ENST00000335282.4_Missense_Mutation_p.R107H|FAM183A_ENST00000409337.1_3'UTR	p.R79H			A6NL82	F183A_HUMAN			4	332	+			107					B7ZBL8	Missense_Mutation	SNP	ENST00000335282.4	37	c.236G>A	CCDS44126.1	.	.	.	.	.	.	.	.	.	.	G	3.565	-0.088799	0.07097	.	.	ENSG00000186973	ENST00000409706;ENST00000410048;ENST00000409337;ENST00000410025;ENST00000409396;ENST00000335282	.	.	.	4.07	-3.56	0.04626	.	0.307448	0.21858	N	0.068067	T	0.19485	0.0468	N	0.20401	0.57	0.24154	N	0.995687	B	0.13594	0.008	B	0.08055	0.003	T	0.10359	-1.0633	9	0.25106	T	0.35	.	6.043	0.19744	0.3762:0.1422:0.4816:0.0	.	107	A6NL82	F183A_HUMAN	H	107;79;17;55;123;107	.	ENSP00000334415:R107H	R	+	2	0	FAM183A	43394486	0.562000	0.26586	0.570000	0.28473	0.016000	0.09150	-0.299000	0.08254	-0.672000	0.05266	-1.128000	0.01989	CGC		0.527	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376		4	104	0	0	0	1	0	4	104				
LRRC48	83450	broad.mit.edu	37	17	17896185	17896185	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:17896185A>G	ENST00000399187.1	+	6	769	c.551A>G	c.(550-552)gAc>gGc	p.D184G	LRRC48_ENST00000399182.1_Missense_Mutation_p.D184G|LRRC48_ENST00000313838.8_Missense_Mutation_p.D184G|LRRC48_ENST00000411504.2_Missense_Mutation_p.D184G|LRRC48_ENST00000584166.1_Missense_Mutation_p.D184G	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	184	LRRCT.					cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TACCTTCCTGACCTCATGTAC	0.557																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(550-552)gAc>gGc		leucine rich repeat containing 48							92.0	93.0	93.0					17																	17896185		2112	4235	6347	SO:0001583	missense	83450					cytoplasm		g.chr17:17896185A>G	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.551A>G	17.37:g.17896185A>G	ENSP00000382140:p.Asp184Gly					LRRC48_ENST00000399187.1_Missense_Mutation_p.D184G|LRRC48_ENST00000411504.2_Missense_Mutation_p.D184G|LRRC48_ENST00000584166.1_Missense_Mutation_p.D184G|LRRC48_ENST00000399182.1_Missense_Mutation_p.D184G	p.D184G	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN			7	930	+	all_neural(463;0.228)		184			LRRCT.		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.551A>G	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592187	0.46214	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.09	5.09	0.68999	.	0.305303	0.39544	N	0.001336	T	0.48519	0.1504	L	0.53729	1.69	0.80722	D	1	B;B	0.14012	0.009;0.008	B;B	0.13407	0.006;0.009	T	0.42865	-0.9426	10	0.34782	T	0.22	-43.2415	13.8732	0.63634	1.0:0.0:0.0:0.0	.	184;184	Q9H069;Q9H069-2	LRC48_HUMAN;.	G	184	ENSP00000326870:D184G;ENSP00000394020:D184G;ENSP00000382140:D184G;ENSP00000382136:D184G	ENSP00000326870:D184G	D	+	2	0	LRRC48	17836910	1.000000	0.71417	0.797000	0.32132	0.794000	0.44872	5.037000	0.64170	1.919000	0.55581	0.460000	0.39030	GAC		0.557	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		3	31	0	0	0	1	0	3	31				
P2RY11	5032	broad.mit.edu	37	19	10226178	10226178	+	IGR	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:10226178G>C	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.L308L	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGTTGAGGATGAGGTGGTCGT	0.632																																						ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(922-924)ctC>ctG		eukaryotic translation initiation factor 3, subunit G							74.0	75.0	75.0					19																	10226178		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226178G>C	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226178G>C							p.L308L	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	966	-			308			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.924C>G	CCDS12226.1																																																																																				0.632	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		11	49	0	0	0	1	0	11	49				
ZNF493	284443	broad.mit.edu	37	19	21606524	21606524	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:21606524T>G	ENST00000355504.4	+	2	945	c.679T>G	c.(679-681)Tgc>Ggc	p.C227G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C355G	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	227					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGAAGAATATTGCAAAGCTTA	0.358																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1063-1065)Tgc>Ggc		zinc finger protein 493							47.0	52.0	50.0					19																	21606524		2200	4294	6494	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606524T>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.679T>G	19.37:g.21606524T>G	ENSP00000347691:p.Cys227Gly					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C227G	p.C355G	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1172	+			227					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1063T>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.732543	0.00687	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09445	2.98;2.98	0.966	0.966	0.19667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01387	0.0045	N	0.00047	-2.435	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45775	-0.9238	9	0.02654	T	1	.	6.1401	0.20255	0.0:0.0:0.4753:0.5247	.	227;355	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	G	355;227	ENSP00000376110:C355G;ENSP00000347691:C227G	ENSP00000347691:C227G	C	+	1	0	ZNF493	21398364	0.966000	0.33281	0.004000	0.12327	0.004000	0.04260	0.316000	0.19469	-0.548000	0.06199	-0.550000	0.04213	TGC		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	45	0	0	0	1	0	7	45				
SI	6476	broad.mit.edu	37	3	164757710	164757710	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:164757710C>T	ENST00000264382.3	-	19	2271	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	737	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATGCAGGGCCCCACAAAAAC	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2209-2211)Ggc>Agc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						120.0	125.0	124.0					3																	164757710		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757710C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2209G>A	3.37:g.164757710C>T	ENSP00000264382:p.Gly737Ser	HNSCC(35;0.089)					p.G737S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			19	2271	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	737			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2209G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717689	0.89205	.	.	ENSG00000090402	ENST00000264382	D	0.99005	-5.32	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96970	3.915	0.58432	D	0.999999	D	0.63880	0.993	D	0.73708	0.981	D	0.97866	1.0283	10	0.87932	D	0	.	17.7416	0.88408	0.0:1.0:0.0:0.0	.	737	P14410	SUIS_HUMAN	S	737	ENSP00000264382:G737S	ENSP00000264382:G737S	G	-	1	0	SI	166240404	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.238000	0.72350	2.498000	0.84270	0.644000	0.83932	GGC		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	98	0	0	0	1	0	10	98				
GPR39	2863	broad.mit.edu	37	2	133402871	133402871	+	Silent	SNP	C	C	A	rs575186714		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:133402871C>A	ENST00000329321.3	+	2	1523	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1054-1056)Cgg>Agg		G protein-coupled receptor 39							79.0	73.0	75.0					2																	133402871		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402871C>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1054C>A	2.37:g.133402871C>A						LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.R352R	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1523	+			352					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.1054C>A	CCDS2170.1																																																																																				0.632	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			16	46	1	0	2.35188e-11	1	2.6108e-11	16	46				
WDR59	79726	broad.mit.edu	37	16	75018899	75018899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:75018899C>T	ENST00000262144.6	-	1	147	c.17G>A	c.(16-18)aGc>aAc	p.S6N	WDR59_ENST00000562331.1_Intron	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	6										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTTTTCGCTGCTCCATCGCGC	0.726																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(16-18)aGc>aAc		WD repeat domain 59							61.0	46.0	51.0					16																	75018899		2183	4292	6475	SO:0001583	missense	79726							g.chr16:75018899C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.17G>A	16.37:g.75018899C>T	ENSP00000262144:p.Ser6Asn					WDR59_ENST00000562331.1_Intron	p.S6N	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			1	147	-			6					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.17G>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616971	0.46736	.	.	ENSG00000103091	ENST00000262144	T	0.69040	-0.37	4.53	4.53	0.55603	.	0.092011	0.64402	D	0.000001	T	0.53222	0.1783	L	0.35723	1.085	0.47737	D	0.999501	B;B	0.29301	0.241;0.048	B;B	0.28709	0.093;0.026	T	0.48043	-0.9069	10	0.14252	T	0.57	-1.4459	12.9352	0.58309	0.0:1.0:0.0:0.0	.	6;6	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	N	6	ENSP00000262144:S6N	ENSP00000262144:S6N	S	-	2	0	WDR59	73576400	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.735000	0.55044	2.501000	0.84356	0.563000	0.77884	AGC		0.726	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		3	8	0	0	0	1	0	3	8				
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																						ENST00000220669.5																			3	Substitution - Nonsense(3)	p.R130*(3)	lung(1)|ovary(1)|prostate(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(388-390)Cga>Tga		zinc finger, AN1-type domain 1							187.0	158.0	168.0					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*	p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			6	406	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		11	42	0	0	0	1	0	11	42				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	57	0	0	0	1	0	3	57				
RBPJ	3516	broad.mit.edu	37	4	26422206	26422206	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:26422206G>A	ENST00000361572.6	+	5	588	c.394G>A	c.(394-396)Gac>Aac	p.D132N	RBPJ_ENST00000348160.4_Missense_Mutation_p.D119N|RBPJ_ENST00000342320.4_Missense_Mutation_p.D118N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D118N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D132N|RBPJ_ENST00000507561.1_Missense_Mutation_p.D97N|RBPJ_ENST00000504907.1_Missense_Mutation_p.D118N|RBPJ_ENST00000345843.3_Missense_Mutation_p.D117N			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	132					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTATATATCTGACTCAGACAA	0.373																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(352-354)Gac>Aac		recombination signal binding protein for immunoglobulin kappa J region							77.0	69.0	72.0					4																	26422206		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26422206G>A	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.394G>A	4.37:g.26422206G>A	ENSP00000354528:p.Asp132Asn					RBPJ_ENST00000504907.1_Missense_Mutation_p.D118N|RBPJ_ENST00000348160.4_Missense_Mutation_p.D119N|RBPJ_ENST00000507561.1_Missense_Mutation_p.D97N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D132N|RBPJ_ENST00000361572.6_Missense_Mutation_p.D132N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D118N|RBPJ_ENST00000345843.3_Missense_Mutation_p.D117N	p.D118N			Q06330	SUH_HUMAN			5	528	+		Breast(46;0.0503)	132					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.352G>A	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414153	0.96092	.	.	ENSG00000168214	ENST00000510778;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000507574;ENST00000515573;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.65	5.65	0.86999	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.994;0.994;0.995	D;D;P;P;P;P	0.97110	1.0;1.0;0.893;0.828;0.828;0.893	D	0.94930	0.8081	10	0.72032	D	0.01	-18.4008	19.7105	0.96095	0.0:0.0:1.0:0.0	.	132;118;119;118;117;132	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	N	155;132;117;132;132;119;118;97;97;97;118;118;97	ENSP00000427170:D155N;ENSP00000423644:D132N;ENSP00000305815:D117N;ENSP00000345206:D132N;ENSP00000354528:D132N;ENSP00000339699:D119N;ENSP00000347659:D118N;ENSP00000423907:D97N;ENSP00000422617:D97N;ENSP00000423406:D97N;ENSP00000423703:D118N;ENSP00000340124:D118N;ENSP00000424459:D97N	ENSP00000345206:D132N	D	+	1	0	RBPJ	26031304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.663000	0.90544	0.650000	0.86243	GAC		0.373	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		4	32	0	0	0	1	0	4	32				
TADA1	117143	broad.mit.edu	37	1	166833074	166833074	+	Missense_Mutation	SNP	C	C	G	rs369349477		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:166833074C>G	ENST00000367874.4	-	4	410	c.317G>C	c.(316-318)cGt>cCt	p.R106P	TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	106					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AAATTTCTGACGAACAGAAGA	0.393																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(316-318)cGt>cCt		transcriptional adaptor 1							77.0	80.0	79.0					1																	166833074		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166833074C>G	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.317G>C	1.37:g.166833074C>G	ENSP00000356848:p.Arg106Pro						p.R106P	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN			4	410	-			106					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.317G>C	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597323	0.66332	.	.	ENSG00000152382	ENST00000367874	T	0.52295	0.67	6.17	6.17	0.99709	.	0.105784	0.64402	D	0.000005	T	0.20455	0.0492	N	0.08118	0	0.46927	D	0.999258	B;B	0.21905	0.062;0.062	B;B	0.19666	0.026;0.026	T	0.11036	-1.0604	9	0.87932	D	0	-23.9843	18.3732	0.90420	0.0:1.0:0.0:0.0	.	106;106	A8K4J9;Q96BN2	.;TADA1_HUMAN	P	106	ENSP00000356848:R106P	ENSP00000356848:R106P	R	-	2	0	TADA1	165099698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.732000	0.74790	2.941000	0.99782	0.655000	0.94253	CGT		0.393	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		8	41	0	0	0	1	0	8	41				
STAC	6769	broad.mit.edu	37	3	36587780	36587780	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:36587780G>T	ENST00000273183.3	+	11	1508	c.1208G>T	c.(1207-1209)tGa>tTa	p.*403L	STAC_ENST00000457375.2_Nonstop_Mutation_p.*342L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	0					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAAAACATCTGATTGCTGGCT	0.507																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(1207-1209)tGa>tTa		SH3 and cysteine rich domain							143.0	124.0	130.0					3																	36587780		2203	4300	6503	SO:0001578	stop_lost	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36587780G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1208G>T	3.37:g.36587780G>T	ENSP00000273183:p.*403Leuext*46					STAC_ENST00000457375.2_Nonstop_Mutation_p.*342L	p.*403L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			11	1508	+			0					B2R8S8	Nonstop_Mutation	SNP	ENST00000273183.3	37	c.1208G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563127	0.65538	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8263	0.85933	0.0:0.0:1.0:0.0	.	.	.	.	L	403;342;335	.	.	X	+	2	2	STAC	36562784	1.000000	0.71417	0.996000	0.52242	0.794000	0.44872	7.280000	0.78610	2.565000	0.86533	0.655000	0.94253	TGA		0.507	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		9	38	1	0	1.12685e-05	1	1.19604e-05	9	38				
UIMC1	51720	broad.mit.edu	37	5	176334156	176334156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:176334156C>T	ENST00000377227.4	-	13	2003	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	UIMC1_ENST00000377219.2_Missense_Mutation_p.R625Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R624Q|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Missense_Mutation_p.R458Q			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	624					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.R624L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAAGGAGTCGGCCTTCACT	0.468																																						ENST00000377219.2																			1	Substitution - Missense(1)	p.R624L(1)	lung(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1873-1875)cGa>cAa		ubiquitin interaction motif containing 1							89.0	83.0	85.0					5																	176334156		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176334156C>T	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1871G>A	5.37:g.176334156C>T	ENSP00000366434:p.Arg624Gln					UIMC1_ENST00000506128.1_Missense_Mutation_p.R458Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R624Q|UIMC1_ENST00000377227.4_Missense_Mutation_p.R624Q	p.R625Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2040	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	624					A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1874G>A	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788206	0.90367	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.22336	2.0;2.0;2.0;1.96	5.32	5.32	0.75619	.	0.192635	0.34178	N	0.004192	T	0.45637	0.1352	M	0.63843	1.955	0.41581	D	0.988743	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.25152	-1.0140	10	0.46703	T	0.11	.	18.1478	0.89663	0.0:1.0:0.0:0.0	.	624;254;546	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	Q	624;625;624;458;547;255	ENSP00000366434:R624Q;ENSP00000366425:R625Q;ENSP00000421926:R624Q;ENSP00000427480:R458Q	ENSP00000314909:R255Q	R	-	2	0	UIMC1	176266762	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.309000	0.43699	2.661000	0.90470	0.650000	0.86243	CGA		0.468	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		3	19	0	0	0	1	0	3	19				
SPAST	6683	broad.mit.edu	37	2	32379522	32379522	+	Missense_Mutation	SNP	C	C	T	rs368801051		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:32379522C>T	ENST00000315285.3	+	17	1933	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	SPAST_ENST00000345662.1_Missense_Mutation_p.A571V	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTAGAAGCGTACATACGT	0.348																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1807-1809)gCg>gTg		spastin		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	95.0	94.0	94.0		1808,1712	5.8	1.0	2		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPAST	NM_014946.3,NM_199436.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	603/617,571/585	32379522	1,13005	2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32379522C>T	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1808C>T	2.37:g.32379522C>T	ENSP00000320885:p.Ala603Val					SPAST_ENST00000345662.1_Missense_Mutation_p.A571V	p.A603V	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			17	1933	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		603			Sufficient for microtubule severing.			Missense_Mutation	SNP	ENST00000315285.3	37	c.1808C>T	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841822	0.51057	0.0	1.16E-4	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.98012	-4.66;-4.66	5.76	5.76	0.90799	.	0.281620	0.42548	D	0.000694	D	0.95345	0.8489	L	0.39633	1.23	0.51767	D	0.999937	B;B	0.33103	0.397;0.265	B;B	0.25614	0.022;0.062	D	0.93608	0.6936	10	0.38643	T	0.18	-3.3886	19.9266	0.97104	0.0:1.0:0.0:0.0	.	571;603	E5KRP6;Q9UBP0	.;SPAST_HUMAN	V	571;603	ENSP00000340817:A571V;ENSP00000320885:A603V	ENSP00000320885:A603V	A	+	2	0	SPAST	32233026	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.142000	0.50601	2.871000	0.98454	0.655000	0.94253	GCG		0.348	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		3	49	0	0	0	1	0	3	49				
SOCS4	122809	broad.mit.edu	37	14	55510556	55510556	+	Missense_Mutation	SNP	C	C	T	rs371318817		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:55510556C>T	ENST00000395472.2	+	2	1129	c.797C>T	c.(796-798)aCg>aTg	p.T266M	SOCS4_ENST00000339298.2_Missense_Mutation_p.T266M|SOCS4_ENST00000555846.1_Missense_Mutation_p.T266M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	266					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AAATACCACACGCAGATTGAT	0.418																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(796-798)aCg>aTg		suppressor of cytokine signaling 4		C	MET/THR,MET/THR	0,4406		0,0,2203	137.0	118.0	124.0		797,797	5.9	1.0	14		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SOCS4	NM_080867.2,NM_199421.1	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	266/441,266/441	55510556	1,13005	2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510556C>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.797C>T	14.37:g.55510556C>T	ENSP00000378855:p.Thr266Met					SOCS4_ENST00000339298.2_Missense_Mutation_p.T266M|SOCS4_ENST00000555846.1_Missense_Mutation_p.T266M	p.T266M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1129	+			266						Missense_Mutation	SNP	ENST00000395472.2	37	c.797C>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921377	0.52653	0.0	1.16E-4	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.36699	1.24;1.24;1.24	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	P	0.54815	0.761	T	0.39800	-0.9596	10	0.87932	D	0	-14.268	20.207	0.98280	0.0:1.0:0.0:0.0	.	266	Q8WXH5	SOCS4_HUMAN	M	266	ENSP00000378855:T266M;ENSP00000452522:T266M;ENSP00000341327:T266M	ENSP00000341327:T266M	T	+	2	0	SOCS4	54580309	1.000000	0.71417	0.995000	0.50966	0.166000	0.22503	6.067000	0.71193	2.765000	0.95021	0.650000	0.86243	ACG		0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			16	60	0	0	0	1	0	16	60				
OLFM4	10562	broad.mit.edu	37	13	53624329	53624329	+	Missense_Mutation	SNP	G	G	C	rs144683972		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:53624329G>C	ENST00000219022.2	+	5	1034	c.956G>C	c.(955-957)cGa>cCa	p.R319P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	319	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.R319Q(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATAAATGCTCGAGAGTTGCGG	0.433																																						ENST00000219022.2																			1	Substitution - Missense(1)	p.R319Q(1)	lung(1)	breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(955-957)cGa>cCa		olfactomedin 4							131.0	106.0	114.0					13																	53624329		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624329G>C	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.956G>C	13.37:g.53624329G>C	ENSP00000219022:p.Arg319Pro						p.R319P	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1034	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	319			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.956G>C	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442851	0.25987	.	.	ENSG00000102837	ENST00000219022	D	0.89343	-2.5	5.92	-4.44	0.03557	Olfactomedin-like (3);	1.252940	0.05227	N	0.509545	D	0.88009	0.6322	L	0.54323	1.7	0.09310	N	1	P	0.47484	0.896	P	0.51701	0.677	T	0.79652	-0.1714	10	0.40728	T	0.16	.	5.7045	0.17901	0.5433:0.0858:0.2844:0.0866	.	319	Q6UX06	OLFM4_HUMAN	P	319	ENSP00000219022:R319P	ENSP00000219022:R319P	R	+	2	0	OLFM4	52522330	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.853000	0.00731	-1.042000	0.03262	0.650000	0.86243	CGA		0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		25	78	0	0	0	1	0	25	78				
ASTN1	460	broad.mit.edu	37	1	177001737	177001737	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:177001737G>A	ENST00000367654.3	-	3	931	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ASTN1_ENST00000424564.2_Silent_p.D240D|ASTN1_ENST00000361833.2_Silent_p.D240D|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.D240D	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	240					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTCATAGCCGTCCAGGATAG	0.632																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(718-720)gaC>gaT		astrotactin 1							144.0	101.0	116.0					1																	177001737		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001737G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.720C>T	1.37:g.177001737G>A						ASTN1_ENST00000361833.2_Silent_p.D240D|ASTN1_ENST00000424564.2_Silent_p.D240D|ASTN1_ENST00000367657.3_Silent_p.D240D|ASTN1_ENST00000281881.3_5'UTR	p.D240D			O14525	ASTN1_HUMAN			3	733	-			240					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.720C>T																																																																																					0.632	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		16	54	0	0	0	1	0	16	54				
PLEKHA6	22874	broad.mit.edu	37	1	204198208	204198208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:204198208C>T	ENST00000272203.3	-	19	2924	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E890K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	870										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ATGTCTACCTCATGGATGCTG	0.632																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2608-2610)Gag>Aag		pleckstrin homology domain containing, family A member 6							41.0	44.0	43.0					1																	204198208		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204198208C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2608G>A	1.37:g.204198208C>T	ENSP00000272203:p.Glu870Lys					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E890K	p.E870K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		19	2924	-	all_cancers(21;0.0222)|Breast(84;0.179)		870					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2608G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305087	0.95601	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11169	2.8;3.26	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	M	0.75264	2.295	0.58432	D	0.999999	D	0.58268	0.982	D	0.67548	0.952	T	0.01283	-1.1396	10	0.35671	T	0.21	-30.1428	18.8353	0.92159	0.0:1.0:0.0:0.0	.	870	Q9Y2H5	PKHA6_HUMAN	K	870;890	ENSP00000272203:E870K;ENSP00000402046:E890K	ENSP00000272203:E870K	E	-	1	0	PLEKHA6	202464831	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	6.740000	0.74832	2.543000	0.85770	0.467000	0.42956	GAG		0.632	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		8	37	0	0	0	1	0	8	37				
DIAPH2	1730	broad.mit.edu	37	X	96136680	96136680	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:96136680G>C	ENST00000324765.8	+	5	897	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	DIAPH2_ENST00000355827.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E184Q|RPA4_ENST00000373040.3_5'Flank|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E180Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	184	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TAATTGCCTAGAATCCCTCAG	0.383																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(550-552)Gaa>Caa		diaphanous-related formin 2							88.0	80.0	82.0					X																	96136680		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96136680G>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.550G>C	X.37:g.96136680G>C	ENSP00000321348:p.Glu184Gln					DIAPH2_ENST00000373061.3_Missense_Mutation_p.E184Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E180Q	p.E184Q			O60879	DIAP2_HUMAN			5	897	+			184			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.550G>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865912	0.71949	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.44	5.44	0.79542	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.75777	2.31	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.989;0.997	D;D;D	0.77557	0.99;0.965;0.979	D	0.95642	0.8699	10	0.87932	D	0	.	18.3408	0.90304	0.0:0.0:1.0:0.0	.	184;184;191	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	184;180;184;184;184;191	ENSP00000362152:E184Q;ENSP00000362145:E180Q;ENSP00000348082:E184Q;ENSP00000362140:E184Q;ENSP00000321348:E184Q	ENSP00000321348:E184Q	E	+	1	0	DIAPH2	96023336	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.367000	0.97148	2.270000	0.75569	0.594000	0.82650	GAA		0.383	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		10	12	0	0	0	1	0	10	12				
TMEM222	84065	broad.mit.edu	37	1	27657240	27657240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27657240G>A	ENST00000374076.4	+	2	262	c.224G>A	c.(223-225)gGc>gAc	p.G75D	TMEM222_ENST00000608611.1_Missense_Mutation_p.G42D	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	75						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCCACATGGGCATCTGCACA	0.577																																						ENST00000374076.4																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(223-225)gGc>gAc		transmembrane protein 222							161.0	166.0	164.0					1																	27657240		2203	4300	6503	SO:0001583	missense	84065					integral to membrane	protein binding	g.chr1:27657240G>A	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.224G>A	1.37:g.27657240G>A	ENSP00000363189:p.Gly75Asp						p.G75D	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN			2	262	+			75					D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	37	c.224G>A	CCDS297.2	.	.	.	.	.	.	.	.	.	.	G	32	5.130799	0.94473	.	.	ENSG00000186501	ENST00000374076;ENST00000374073;ENST00000498220	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91219	0.5005	9	0.87932	D	0	-25.2547	18.4842	0.90823	0.0:0.0:1.0:0.0	.	75	Q9H0R3	TM222_HUMAN	D	75;42;41	.	ENSP00000363186:G42D	G	+	2	0	TMEM222	27529827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.166000	0.94766	2.617000	0.88574	0.655000	0.94253	GGC		0.577	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		25	106	0	0	0	1	0	25	106				
ABCD1	215	broad.mit.edu	37	X	153001569	153001569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:153001569C>T	ENST00000218104.3	+	3	1484	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	362	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCAGATGCAGAGGCCGTG	0.622																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1084-1086)gCa>gTa		ATP-binding cassette, sub-family D (ALD), member 1							51.0	51.0	51.0					X																	153001569		2203	4299	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001569C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1085C>T	X.37:g.153001569C>T	ENSP00000218104:p.Ala362Val					U52111.14_ENST00000434284.1_RNA	p.A362V	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			3	1484	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		362			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1085C>T	CCDS14728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.85|10.85	1.467294|1.467294	0.26335|0.26335	.|.	.|.	ENSG00000101986|ENSG00000101986	ENST00000218104|ENST00000443684	D|.	0.94092|.	-3.35|.	4.53|4.53	2.6|2.6	0.31112|0.31112	.|.	0.287341|.	0.28665|.	N|.	0.014559|.	T|.	0.39306|.	0.1073|.	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B|.	0.15930|.	0.015|.	B|.	0.12837|.	0.008|.	T|.	0.09079|.	-1.0691|.	10|.	0.22706|.	T|.	0.39|.	0.3486|0.3486	7.2853|7.2853	0.26335|0.26335	0.1667:0.7373:0.0:0.0959|0.1667:0.7373:0.0:0.0959	.|.	362|.	P33897|.	ABCD1_HUMAN|.	V|X	362|30	ENSP00000218104:A362V|.	ENSP00000218104:A362V|.	A|Q	+|+	2|1	0|0	ABCD1|ABCD1	152654763|152654763	0.515000|0.515000	0.26210|0.26210	0.014000|0.014000	0.15608|0.15608	0.031000|0.031000	0.12232|0.12232	3.925000|3.925000	0.56484|0.56484	0.835000|0.835000	0.34877|0.34877	0.523000|0.523000	0.50628|0.50628	GCA|CAG		0.622	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		12	23	0	0	0	1	0	12	23				
LIG4	3981	broad.mit.edu	37	13	108860946	108860946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:108860946C>G	ENST00000356922.4	-	2	2943	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	LIG4_ENST00000442234.1_Missense_Mutation_p.E891Q|LIG4_ENST00000405925.1_Missense_Mutation_p.E891Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	891	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACCCAACTTTCTTTTAGGATT	0.343								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2671-2673)Gaa>Caa	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							43.0	44.0	44.0					13																	108860946		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108860946C>G	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2671G>C	13.37:g.108860946C>G	ENSP00000349393:p.Glu891Gln					LIG4_ENST00000442234.1_Missense_Mutation_p.E891Q|LIG4_ENST00000405925.1_Missense_Mutation_p.E891Q	p.E891Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2943	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		891			BRCT 2.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2671G>C	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	5.185	0.219755	0.09863	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.82255	-1.59;-1.59;-1.59	5.76	4.92	0.64577	BRCT (4);	0.458447	0.24909	N	0.034627	T	0.77082	0.4078	L	0.41824	1.3	0.19575	N	0.999961	B	0.16603	0.018	B	0.22880	0.042	T	0.60161	-0.7317	10	0.17832	T	0.49	.	15.8169	0.78608	0.0:0.8558:0.1442:0.0	.	891	P49917	DNLI4_HUMAN	Q	891	ENSP00000385955:E891Q;ENSP00000402030:E891Q;ENSP00000349393:E891Q	ENSP00000349393:E891Q	E	-	1	0	LIG4	107658947	0.986000	0.35501	0.014000	0.15608	0.176000	0.22953	4.466000	0.60148	1.439000	0.47511	0.573000	0.79308	GAA		0.343	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		16	29	0	0	0	1	0	16	29				
UROC1	131669	broad.mit.edu	37	3	126224668	126224668	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:126224668G>A	ENST00000290868.2	-	8	742	c.689C>T	c.(688-690)gCa>gTa	p.A230V	UROC1_ENST00000383579.3_Missense_Mutation_p.A230V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	230					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTACCGACGTGCAGCATTCAA	0.657																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(688-690)gCa>gTa		urocanate hydratase 1							57.0	48.0	51.0					3																	126224668		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126224668G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.689C>T	3.37:g.126224668G>A	ENSP00000290868:p.Ala230Val					UROC1_ENST00000383579.3_Missense_Mutation_p.A230V	p.A230V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	8	742	-			230					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.689C>T	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.842167	0.32513	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.51325	0.71;0.71	4.78	2.93	0.34026	Urocanase domain (2);	0.055923	0.64402	D	0.000001	T	0.51398	0.1672	M	0.82823	2.61	0.28155	N	0.929243	P;B	0.40302	0.712;0.154	B;B	0.38921	0.285;0.201	T	0.54483	-0.8287	10	0.87932	D	0	-18.0622	12.5533	0.56240	0.0:0.6349:0.365:0.0	.	230;230	E9PE13;Q96N76	.;HUTU_HUMAN	V	230	ENSP00000290868:A230V;ENSP00000373073:A230V	ENSP00000290868:A230V	A	-	2	0	UROC1	127707358	0.999000	0.42202	0.049000	0.19019	0.099000	0.18886	4.299000	0.59073	0.407000	0.25591	0.586000	0.80456	GCA		0.657	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		4	31	0	0	0	1	0	4	31				
PCDHGA5	56110	broad.mit.edu	37	5	140744164	140744164	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:140744164G>A	ENST00000518069.1	+	1	267	c.267G>A	c.(265-267)agG>agA	p.R89R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGGCAGGATAGACCGGG	0.557																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(265-267)agG>agA									53.0	63.0	60.0					5																	140744164		2193	4296	6489	SO:0001819	synonymous_variant	56110							g.chr5:140744164G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.267G>A	5.37:g.140744164G>A						PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R89R	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	267	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.267G>A	CCDS54925.1																																																																																				0.557	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		15	64	0	0	0	1	0	15	64				
GYPB	2994	broad.mit.edu	37	4	145040931	145040931	+	Intron	SNP	G	G	A	rs144802902	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:145040931G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000535709.1_Missense_Mutation_p.T21M|GYPA_ENST00000504786.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.T47M|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Intron|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000360771.4_Missense_Mutation_p.T47M|GYPA_ENST00000324022.10_Missense_Mutation_p.T14M			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CCGTTTGTGCGTATCTGCATA	0.453																																						ENST00000360771.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(139-141)aCg>aTg		glycophorin A (MNS blood group)							90.0	78.0	82.0					4																	145040931		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145040931G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+20820C>T	4.37:g.145040931G>A						GYPA_ENST00000324022.10_Missense_Mutation_p.T14M|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Intron|GYPA_ENST00000512789.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T21M|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.T47M	p.T47M	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN			3	255	-	all_hematologic(180;0.15)		47		T -> K (in ENEH/Hut antigen).|T -> M (in ENEH/Vw antigen).			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.140C>T		.	.	.	.	.	.	.	.	.	.	T	13.23	2.174311	0.38413	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.1	-2.2	0.06994	.	.	.	.	.	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	P;P;D;D	0.65815	0.774;0.91;0.971;0.995	B;P;P;P	0.55667	0.392;0.494;0.57;0.781	T	0.29549	-1.0008	9	0.51188	T	0.08	.	1.5804	0.02633	0.2304:0.1605:0.4344:0.1747	.	14;47;47;47	B8Q185;E9PD10;P02724;Q16336	.;.;GLPA_HUMAN;.	M	47;14;21;47	ENSP00000354003:T47M;ENSP00000324483:T14M;ENSP00000445398:T21M;ENSP00000426130:T47M	ENSP00000324483:T14M	T	-	2	0	GYPA	145260381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.698000	0.00826	-3.532000	0.00145	-2.569000	0.00171	ACG		0.453	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		4	38	0	0	0	1	0	4	38				
TMEM38A	79041	broad.mit.edu	37	19	16799059	16799059	+	Silent	SNP	C	C	T	rs186471011|rs538628487	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:16799059C>T	ENST00000187762.2	+	6	868	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	259						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACCATCACCACGACAACCATG	0.632													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.0					ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(775-777)caC>caT		transmembrane protein 38A		C		2,4404	4.2+/-10.8	0,2,2201	113.0	115.0	114.0		777	-6.2	0.9	19		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM38A	NM_024074.1		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		259/300	16799059	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799059C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.777C>T	19.37:g.16799059C>T							p.H259H	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	868	+			259					A8K9P9	Silent	SNP	ENST00000187762.2	37	c.777C>T	CCDS12349.1																																																																																				0.632	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		32	131	0	0	0	1	0	32	131				
MUC17	140453	broad.mit.edu	37	7	100684366	100684366	+	Silent	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100684366A>G	ENST00000306151.4	+	3	9733	c.9669A>G	c.(9667-9669)ccA>ccG	p.P3223P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3223	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)					GAATGACTCCATTAACTAGTG	0.488																																						ENST00000306151.4																			0				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						c.(9667-9669)ccA>ccG		mucin 17, cell surface associated							269.0	273.0	272.0					7																	100684366		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684366A>G	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.9669A>G	7.37:g.100684366A>G							p.P3223P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9733	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3223			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9669A>G	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		56	281	0	0	0	1	0	56	281				
ZNF555	148254	broad.mit.edu	37	19	2852908	2852908	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:2852908A>G	ENST00000334241.4	+	4	983	c.845A>G	c.(844-846)aAg>aGg	p.K282R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.K281R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		ACTGGCGAGAAGCCATATAAA	0.403																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(844-846)aAg>aGg		zinc finger protein 555							65.0	59.0	61.0					19																	2852908		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852908A>G	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.845A>G	19.37:g.2852908A>G	ENSP00000334853:p.Lys282Arg					AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.K281R	p.K282R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_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)	4	983	+			282					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.845A>G	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177981	0.57692	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.24908	1.83	3.16	3.16	0.36331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18718	0.0449	N	0.25031	0.7	0.24556	N	0.993995	P;B	0.36249	0.545;0.369	B;B	0.37601	0.254;0.219	T	0.12837	-1.0532	9	0.62326	D	0.03	.	9.6574	0.39934	1.0:0.0:0.0:0.0	.	282;281	Q8NEP9;A8KA89	ZN555_HUMAN;.	R	282;281	ENSP00000334853:K282R	ENSP00000334853:K282R	K	+	2	0	ZNF555	2803908	0.678000	0.27586	0.146000	0.22360	0.816000	0.46133	0.751000	0.26348	1.451000	0.47736	0.459000	0.35465	AAG		0.403	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		7	52	0	0	0	1	0	7	52				
FBXO18	84893	broad.mit.edu	37	10	5958338	5958338	+	Silent	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:5958338A>G	ENST00000362091.4	+	10	1822	c.1707A>G	c.(1705-1707)gaA>gaG	p.E569E	FBXO18_ENST00000397269.3_Silent_p.E56E|FBXO18_ENST00000379999.5_Silent_p.E620E	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	569					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGCTGACGAAGAGCTGACCA	0.478																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(1858-1860)gaA>gaG		F-box protein, helicase, 18							172.0	150.0	158.0					10																	5958338		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5958338A>G	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1707A>G	10.37:g.5958338A>G						FBXO18_ENST00000362091.4_Silent_p.E569E|FBXO18_ENST00000379994.1_Silent_p.E306E|FBXO18_ENST00000397269.3_Silent_p.E56E	p.E620E	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			11	1964	+			569					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.1860A>G	CCDS7072.1																																																																																				0.478	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		6	98	0	0	0	1	0	6	98				
TTC3	7267	broad.mit.edu	37	21	38538034	38538034	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr21:38538034A>G	ENST00000399017.2	+	33	6265	c.3518A>G	c.(3517-3519)aAg>aGg	p.K1173R	TTC3_ENST00000355666.1_Missense_Mutation_p.K1173R|TTC3_ENST00000354749.2_Missense_Mutation_p.K1173R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1173	Arg/Lys-rich (basic).				negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCACTGAAGAAGGTTGCATCA	0.368																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3517-3519)aAg>aGg		tetratricopeptide repeat domain 3							146.0	159.0	155.0					21																	38538034		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538034A>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3518A>G	21.37:g.38538034A>G	ENSP00000381981:p.Lys1173Arg					TTC3_ENST00000354749.2_Missense_Mutation_p.K1173R|TTC3_ENST00000355666.1_Missense_Mutation_p.K1173R|TTC3_ENST00000479930.1_3'UTR	p.K1173R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6265	+		Myeloproliferative disorder(46;0.0412)	1173			Arg/Lys-rich (basic).		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3518A>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933707	0.52866	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.19532	2.14;2.35;2.71;2.71;2.71	4.69	3.5	0.40072	.	0.397843	0.23680	N	0.045632	T	0.34454	0.0898	M	0.64997	1.995	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.56278	0.795;0.629	T	0.05683	-1.0870	10	0.62326	D	0.03	-16.1302	10.223	0.43209	0.8335:0.1665:0.0:0.0	.	231;1173	Q5GIT6;P53804	.;TTC3_HUMAN	R	1173;1155;1173;1173;1173	ENSP00000403943:K1173R;ENSP00000391891:K1155R;ENSP00000347889:K1173R;ENSP00000381981:K1173R;ENSP00000346791:K1173R	ENSP00000346791:K1173R	K	+	2	0	TTC3	37459904	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	3.934000	0.56553	0.718000	0.32166	0.533000	0.62120	AAG		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			18	126	0	0	0	1	0	18	126				
GIT1	28964	broad.mit.edu	37	17	27908805	27908805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:27908805C>A	ENST00000225394.3	-	6	921	c.673G>T	c.(673-675)Gag>Tag	p.E225*	GIT1_ENST00000579937.1_Nonsense_Mutation_p.E225*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Nonsense_Mutation_p.E225*|GIT1_ENST00000581348.1_Nonsense_Mutation_p.E225*	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	225					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCAGTGAGCTCATATTGGCAC	0.662																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(673-675)Gag>Tag		G protein-coupled receptor kinase interacting ArfGAP 1							50.0	47.0	48.0					17																	27908805		2203	4300	6503	SO:0001587	stop_gained	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908805C>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.673G>T	17.37:g.27908805C>A	ENSP00000225394:p.Glu225*					GIT1_ENST00000579937.1_Nonsense_Mutation_p.E225*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Nonsense_Mutation_p.E225*|GIT1_ENST00000394869.3_Nonsense_Mutation_p.E225*	p.E225*	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	6	921	-			225					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Nonsense_Mutation	SNP	ENST00000225394.3	37	c.673G>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	38	7.277482	0.98182	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	.	.	.	X	225	.	ENSP00000225394:E225X	E	-	1	0	GIT1	24932931	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.606000	0.82863	2.882000	0.98803	0.655000	0.94253	GAG		0.662	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		6	26	1	0	0.0293803	1	0.0301273	6	26				
PRPH2	5961	broad.mit.edu	37	6	42666177	42666177	+	Silent	SNP	A	A	G	rs61748429		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:42666177A>G	ENST00000230381.5	-	3	1136	c.897T>C	c.(895-897)tcT>tcC	p.S299S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	299					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCGCTCTCAGATTCCTCGG	0.592																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(895-897)tcT>tcC		peripherin 2 (retinal degeneration, slow)							72.0	71.0	71.0					6																	42666177		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42666177A>G		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.897T>C	6.37:g.42666177A>G							p.S299S	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		3	1136	-	Colorectal(47;0.196)		299					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.897T>C	CCDS4871.1																																																																																				0.592	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		18	48	0	0	0	1	0	18	48				
CHPF2	54480	broad.mit.edu	37	7	150933597	150933597	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:150933597G>T	ENST00000035307.2	+	3	2445	c.932G>T	c.(931-933)gGt>gTt	p.G311V	CHPF2_ENST00000495645.1_Missense_Mutation_p.G303V|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	311					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTCTCCGAAGGTACCCTCATG	0.552																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(931-933)gGt>gTt		chondroitin polymerizing factor 2							59.0	50.0	53.0					7																	150933597		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150933597G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.932G>T	7.37:g.150933597G>T	ENSP00000035307:p.Gly311Val					CHPF2_ENST00000495645.1_Missense_Mutation_p.G303V	p.G311V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			3	2445	+			311					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.932G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961726	0.53400	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.15256	2.44;2.44	5.57	4.67	0.58626	.	0.266331	0.40818	N	0.001001	T	0.10937	0.0267	N	0.14661	0.345	0.58432	D	0.999997	B;P	0.38677	0.297;0.642	B;B	0.37780	0.183;0.258	T	0.14062	-1.0486	10	0.46703	T	0.11	-9.6232	10.8461	0.46744	0.0:0.1329:0.7119:0.1552	.	311;303	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	303;311;311	ENSP00000418914:G303V;ENSP00000035307:G311V	ENSP00000035307:G311V	G	+	2	0	CHPF2	150564530	0.929000	0.31497	0.973000	0.42090	0.988000	0.76386	1.704000	0.37857	1.318000	0.45170	0.650000	0.86243	GGT		0.552	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		5	13	1	0	0.014758	1	0.0152625	5	13				
SCN1A	6323	broad.mit.edu	37	2	166848805	166848805	+	Silent	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:166848805G>C	ENST00000303395.4	-	26	4979	c.4980C>G	c.(4978-4980)ctC>ctG	p.L1660L	SCN1A_ENST00000375405.3_Silent_p.L1649L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.L1660L|SCN1A_ENST00000409050.1_Silent_p.L1632L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1660					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAAAGCAAAGAGCAGCGTGC	0.502																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4978-4980)ctC>ctG		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						115.0	112.0	113.0					2																	166848805		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848805G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4980C>G	2.37:g.166848805G>C						SCN1A_ENST00000409050.1_Silent_p.L1632L|SCN1A_ENST00000375405.3_Silent_p.L1649L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.L1660L	p.L1660L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4997	-			1660					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.4980C>G	CCDS54413.1																																																																																				0.502	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		21	82	0	0	0	1	0	21	82				
TRGV4	6977	broad.mit.edu	37	7	38393464	38393464	+	RNA	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:38393464T>A	ENST00000390345.2	-	0	539									T cell receptor gamma variable 4																		GGTGTAGGAGTCATAGTACAG	0.488																																						ENST00000390345.2																			0																				107.0	96.0	99.0					7																	38393464		1842	3902	5744			6977							g.chr7:38393464T>A	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393464T>A														0	539	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.488	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		15	73	0	0	0	1	0	15	73				
UNK	85451	broad.mit.edu	37	17	73818688	73818688	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:73818688A>T	ENST00000589666.1	+	14	2078	c.1968A>T	c.(1966-1968)gaA>gaT	p.E656D	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Missense_Mutation_p.E732D	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	656							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGATGAAGCCAACAGCA	0.642																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2194-2196)gaA>gaT		unkempt family zinc finger							46.0	53.0	51.0					17																	73818688		2048	4185	6233	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73818688A>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1968A>T	17.37:g.73818688A>T	ENSP00000464893:p.Glu656Asp					UNK_ENST00000589666.1_Missense_Mutation_p.E656D	p.E732D			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2196	+			656						Missense_Mutation	SNP	ENST00000589666.1	37	c.2196A>T	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486411	0.63962	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.76	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	L	0.58101	1.795	0.47584	D	0.999464	D	0.58970	0.984	D	0.65443	0.935	T	0.63479	-0.6628	9	0.45353	T	0.12	-14.085	8.1476	0.31121	0.6894:0.0:0.3106:0.0	.	656	Q9C0B0	UNK_HUMAN	D	732	.	ENSP00000293218:E732D	E	+	3	2	UNK	71330283	0.997000	0.39634	0.996000	0.52242	0.987000	0.75469	0.598000	0.24074	0.817000	0.34445	0.482000	0.46254	GAA		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		12	44	0	0	0	1	0	12	44				
RNF157	114804	broad.mit.edu	37	17	74208539	74208539	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:74208539A>G	ENST00000269391.6	-	2	245	c.113T>C	c.(112-114)aTt>aCt	p.I38T	RNF157_ENST00000319945.6_Missense_Mutation_p.I38T|RNF157_ENST00000592271.1_Missense_Mutation_p.I38T	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	38							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCTCCCATAATGAAGTGGCT	0.398																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(112-114)aTt>aCt		ring finger protein 157							76.0	69.0	71.0					17																	74208539		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74208539A>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.113T>C	17.37:g.74208539A>G	ENSP00000269391:p.Ile38Thr					RNF157_ENST00000592271.1_Missense_Mutation_p.I38T|RNF157_ENST00000319945.6_Missense_Mutation_p.I38T	p.I38T	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	245	-			38					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.113T>C	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281545	0.80692	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.30981	1.51;1.51	5.79	5.79	0.91817	.	0.045500	0.85682	D	0.000000	T	0.50411	0.1614	L	0.58302	1.8	0.80722	D	1	D;P	0.58970	0.984;0.598	D;B	0.63703	0.917;0.254	T	0.50676	-0.8800	10	0.66056	D	0.02	-7.7548	15.1514	0.72703	1.0:0.0:0.0:0.0	.	38;38	Q96PX1-2;Q96PX1	.;RN157_HUMAN	T	38	ENSP00000269391:I38T;ENSP00000321837:I38T	ENSP00000269391:I38T	I	-	2	0	RNF157	71720134	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.829000	0.92055	2.228000	0.72767	0.444000	0.29173	ATT		0.398	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		9	36	0	0	0	1	0	9	36				
OR1C1	26188	broad.mit.edu	37	1	247921201	247921201	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:247921201C>T	ENST00000408896.2	-	1	781	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	170					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATATTGGAGGCACAGAAGGAC	0.483																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(508-510)Gcc>Acc		olfactory receptor, family 1, subfamily C, member 1							69.0	69.0	69.0					1																	247921201		2117	4248	6365	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921201C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.508G>A	1.37:g.247921201C>T	ENSP00000386138:p.Ala170Thr						p.A170T	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	781	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	170					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.508G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680799	0.47886	.	.	ENSG00000221888	ENST00000408896	T	0.36699	1.24	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37839	0.1018	L	0.47078	1.49	0.19945	N	0.999948	D	0.56746	0.977	P	0.61722	0.893	T	0.36237	-0.9756	9	0.02654	T	1	.	4.3086	0.10960	0.3677:0.5154:0.0:0.1169	.	170	Q15619	OR1C1_HUMAN	T	170	ENSP00000386138:A170T	ENSP00000386138:A170T	A	-	1	0	OR1C1	245987824	0.002000	0.14202	1.000000	0.80357	0.908000	0.53690	0.205000	0.17356	1.789000	0.52484	0.580000	0.79431	GCC		0.483	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			7	25	0	0	0	1	0	7	25				
FRMPD2	143162	broad.mit.edu	37	10	49446166	49446166	+	Splice_Site	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:49446166G>A	ENST00000374201.3	-	8	1091	c.789C>T	c.(787-789)cgC>cgT	p.R263R	FRMPD2_ENST00000305531.3_Splice_Site_p.R239R|FRMPD2_ENST00000407470.4_Splice_Site_p.R232R	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	263					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGAAGAGCGCTGGCCAGGG	0.622																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.e8-1		FERM and PDZ domain containing 2							41.0	45.0	44.0					10																	49446166		2203	4300	6503	SO:0001630	splice_region_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49446166G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.789-1C>T	10.37:g.49446166G>A						FRMPD2_ENST00000407470.4_Splice_Site_p.R232_splice|FRMPD2_ENST00000305531.3_Splice_Site_p.R239_splice	p.R263_splice	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	8	1091	-			263					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Splice_Site	SNP	ENST00000374201.3	37	c.788_splice	CCDS31195.1																																																																																				0.622	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	Silent	12	32	0	0	0	1	0	12	32				
FBN1	2200	broad.mit.edu	37	15	48755289	48755289	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:48755289G>A	ENST00000316623.5	-	42	5669	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1738	TB 7.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTACTTGGGATGGGACACT	0.428																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(5212-5214)atC>atT		fibrillin 1							114.0	118.0	117.0					15																	48755289		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48755289G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5214C>T	15.37:g.48755289G>A							p.I1738I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	42	5669	-		all_lung(180;0.00279)	1738			TB 7.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.5214C>T	CCDS32232.1																																																																																				0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			22	80	0	0	0	1	0	22	80				
ZAN	7455	broad.mit.edu	37	7	100348329	100348329	+	RNA	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100348329C>G	ENST00000348028.3	+	0	1496				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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)			CCCTTCTGCGCCCCAGGTGAC	0.602																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							34.0	35.0	35.0					7																	100348329		1979	4167	6146			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348329C>G	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.100348329C>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1479	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	21.5	4.157012	0.78114	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02345	4.33;4.33;4.33	4.8	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.180989	0.27064	N	0.021101	T	0.10208	0.0250	M	0.72894	2.215	0.80722	D	1	P;P	0.47677	0.877;0.899	P;P	0.54060	0.624;0.741	T	0.00325	-1.1816	10	0.56958	D	0.05	.	14.1458	0.65349	0.0:1.0:0.0:0.0	.	444;444	F5H0T8;Q9Y493	.;ZAN_HUMAN	G	444	ENSP00000445943:A444G;ENSP00000445091:A444G;ENSP00000444427:A444G	ENSP00000423579:A444G	A	+	2	0	ZAN	100186265	0.000000	0.05858	0.584000	0.28653	0.916000	0.54674	0.550000	0.23345	2.597000	0.87782	0.650000	0.86243	GCC		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	16	0	0	0	1	0	5	16				
CELSR1	9620	broad.mit.edu	37	22	46931868	46931868	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:46931868G>T	ENST00000262738.3	-	1	1199	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	CELSR1_ENST00000395964.1_Missense_Mutation_p.F400L|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	400	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTGAGCTGGAAGACGTCCC	0.687																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1198-1200)ttC>ttA		cadherin, EGF LAG seven-pass G-type receptor 1							25.0	23.0	24.0					22																	46931868		2201	4297	6498	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931868G>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1200C>A	22.37:g.46931868G>T	ENSP00000262738:p.Phe400Leu					CELSR1_ENST00000395964.1_Missense_Mutation_p.F400L	p.F400L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1199	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	400			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1200C>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982344	0.34942	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.70749	-0.51;-0.51	4.48	-0.486	0.12064	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	U	0.000002	D	0.82737	0.5102	M	0.89840	3.065	0.33911	D	0.63966	D	0.59767	0.986	D	0.68621	0.959	D	0.84609	0.0677	10	0.48119	T	0.1	.	9.9133	0.41419	0.683:0.0:0.317:0.0	.	400	Q9NYQ6	CELR1_HUMAN	L	400	ENSP00000262738:F400L;ENSP00000379293:F400L	ENSP00000262738:F400L	F	-	3	2	CELSR1	45310532	0.989000	0.36119	0.941000	0.38009	0.010000	0.07245	0.347000	0.20014	-0.041000	0.13558	0.462000	0.41574	TTC		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	26	1	0	2.56e-06	1	2.76571e-06	3	26				
HUWE1	10075	broad.mit.edu	37	X	53619411	53619411	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:53619411C>G	ENST00000342160.3	-	32	4376	c.3919G>C	c.(3919-3921)Gag>Cag	p.E1307Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.E1307Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1307Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1307					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCACCTTCCTCTTGCCCTGTA	0.562																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(3919-3921)Gag>Cag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							247.0	198.0	215.0					X																	53619411		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53619411C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3919G>C	X.37:g.53619411C>G	ENSP00000340648:p.Glu1307Gln					HUWE1_ENST00000218328.8_Missense_Mutation_p.E1307Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1307Q	p.E1307Q			Q7Z6Z7	HUWE1_HUMAN			32	4376	-			1307					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3919G>C	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294264|2.294264	0.40594|0.40594	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.22539|.	1.95;1.95;1.95|.	5.88|5.88	5.88|5.88	0.94601|0.94601	UBA-like (1);|.	0.397537|.	0.26251|.	N|.	0.025455|.	T|T	0.41673|0.41673	0.1169|0.1169	N|N	0.08118|0.08118	0|0	0.38651|0.38651	D|D	0.951833|0.951833	P;P|.	0.51351|.	0.907;0.944|.	B;B|.	0.43701|.	0.246;0.428|.	T|T	0.41928|0.41928	-0.9481|-0.9481	10|5	0.16420|.	T|.	0.52|.	.|.	17.8502|17.8502	0.88744|0.88744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1307;1307|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|T	1307|340	ENSP00000340648:E1307Q;ENSP00000262854:E1307Q;ENSP00000218328:E1307Q|.	ENSP00000218328:E1307Q|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53636136|53636136	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	4.102000|4.102000	0.57776|0.57776	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	GAG|AGA		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		11	47	0	0	0	1	0	11	47				
DDIAS	220042	broad.mit.edu	37	11	82644572	82644572	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:82644572C>T	ENST00000533655.1	+	6	2404	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L	C11orf82_ENST00000329143.3_Missense_Mutation_p.S430L|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.S731L	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		731					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATCCAGCCTTCACAAAAATTA	0.368																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2191-2193)tCa>tTa		chromosome 11 open reading frame 82							54.0	56.0	56.0					11																	82644572		2203	4299	6502	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644572C>T																												ENST00000533655.1:c.2192C>T	11.37:g.82644572C>T	ENSP00000435421:p.Ser731Leu					C11orf82_ENST00000430323.2_Missense_Mutation_p.S731L|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.S430L	p.S731L	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2404	+			731					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2192C>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386328	0.42308	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.20463	2.35;2.35;2.07	6.16	4.22	0.49857	.	0.326457	0.25250	N	0.032021	T	0.28499	0.0705	M	0.62723	1.935	0.09310	N	1	D	0.62365	0.991	P	0.50192	0.634	T	0.10941	-1.0608	9	.	.	.	.	9.7654	0.40557	0.14:0.7898:0.0:0.0702	.	731	Q8IXT1	NOXIN_HUMAN	L	731;731;430	ENSP00000414687:S731L;ENSP00000435421:S731L;ENSP00000329930:S430L	.	S	+	2	0	C11orf82	82322220	0.002000	0.14202	0.991000	0.47740	0.111000	0.19643	0.964000	0.29306	2.937000	0.99478	0.650000	0.86243	TCA		0.368	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			14	53	0	0	0	1	0	14	53				
RASEF	158158	broad.mit.edu	37	9	85597629	85597629	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:85597629T>C	ENST00000376447.3	-	17	2446	c.2186A>G	c.(2185-2187)aAa>aGa	p.K729R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	729					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGTGACTTTTTGGAATTGGT	0.408																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2185-2187)aAa>aGa		RAS and EF-hand domain containing							389.0	359.0	369.0					9																	85597629		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85597629T>C	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2186A>G	9.37:g.85597629T>C	ENSP00000365630:p.Lys729Arg						p.K729R	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			17	2446	-			729					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2186A>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003949	0.35320	.	.	ENSG00000165105	ENST00000376447	T	0.62232	0.04	5.05	-3.33	0.04958	.	0.337017	0.32273	N	0.006325	T	0.44808	0.1311	L	0.34521	1.04	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.04029	-1.0983	10	0.40728	T	0.16	.	11.1799	0.48623	0.0:0.4329:0.0:0.5671	.	729	Q8IZ41	RASEF_HUMAN	R	729	ENSP00000365630:K729R	ENSP00000365630:K729R	K	-	2	0	RASEF	84787449	0.986000	0.35501	0.231000	0.23993	0.847000	0.48162	-0.087000	0.11215	-0.995000	0.03459	-0.326000	0.08463	AAA		0.408	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		26	116	0	0	0	1	0	26	116				
USHBP1	83878	broad.mit.edu	37	19	17373777	17373777	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:17373777C>T	ENST00000252597.3	-	4	399	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	USHBP1_ENST00000431146.2_Missense_Mutation_p.G12S|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCAGAGCCCCCATCCATC	0.547																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(226-228)Ggc>Agc		Usher syndrome 1C binding protein 1							57.0	63.0	61.0					19																	17373777		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373777C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.226G>A	19.37:g.17373777C>T	ENSP00000252597:p.Gly76Ser					USHBP1_ENST00000431146.2_Missense_Mutation_p.G12S|USHBP1_ENST00000598570.1_5'UTR	p.G76S	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	399	-			76						Missense_Mutation	SNP	ENST00000252597.3	37	c.226G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516193	0.12944	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.19105	2.33;2.17	3.04	0.839	0.18907	.	1.128370	0.06698	N	0.770812	T	0.11665	0.0284	N	0.19112	0.55	0.09310	N	1	B;B;B	0.27498	0.018;0.043;0.18	B;B;B	0.19946	0.011;0.011;0.027	T	0.33599	-0.9862	10	0.26408	T	0.33	-1.3877	4.4282	0.11515	0.0:0.636:0.2322:0.1318	.	12;76;76	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	S	76;12;76	ENSP00000252597:G76S;ENSP00000407902:G12S	ENSP00000252597:G76S	G	-	1	0	USHBP1	17234777	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.033000	0.12246	0.330000	0.23485	-0.300000	0.09419	GGC		0.547	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		18	64	0	0	0	1	0	18	64				
CRMP1	1400	broad.mit.edu	37	4	5838521	5838521	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5838521G>A	ENST00000397890.2	-	10	1295	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	CRMP1_ENST00000512574.1_Missense_Mutation_p.R359W|CRMP1_ENST00000324989.7_Missense_Mutation_p.R475W|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	361				Missing (in Ref. 7; AAK55500). {ECO:0000305}.	axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACCGTCATCCGCTCCTCTATC	0.577																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1423-1425)Cgg>Tgg		collapsin response mediator protein 1							141.0	116.0	125.0					4																	5838521		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5838521G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1081C>T	4.37:g.5838521G>A	ENSP00000380987:p.Arg361Trp					CRMP1_ENST00000512574.1_Missense_Mutation_p.R359W|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.R361W	p.R475W	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	10	1511	-			361					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.1423C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957220	0.73902	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90133	-2.62;-2.62;-2.62	4.16	3.24	0.37175	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.95997	0.8990	10	0.87932	D	0	-17.74	9.4377	0.38648	0.0:0.0:0.6238:0.3762	.	475;359;361;298	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	W	475;361;361;359	ENSP00000321606:R475W;ENSP00000380987:R361W;ENSP00000425742:R359W	ENSP00000321606:R475W	R	-	1	2	CRMP1	5889422	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.693000	0.37742	2.329000	0.79093	0.462000	0.41574	CGG		0.577	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		21	60	0	0	0	1	0	21	60				
USH2A	7399	broad.mit.edu	37	1	216498645	216498645	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216498645A>G	ENST00000307340.3	-	6	1530		c.e6+1		USH2A_ENST00000366943.2_Splice_Site|USH2A_ENST00000366942.3_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTCATTACCTGATACTG	0.343										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.e6+1		Usher syndrome 2A (autosomal recessive, mild)							96.0	84.0	88.0					1																	216498645		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498645A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1143+1T>C	1.37:g.216498645A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Splice_Site|USH2A_ENST00000366942.3_Splice_Site				O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1530	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37		CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716806	0.68844	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214565268	1.000000	0.71417	0.977000	0.42913	0.815000	0.46073	7.233000	0.78125	2.031000	0.59945	0.528000	0.53228	.		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	12	44	0	0	0	1	0	12	44				
BPIFB4	149954	broad.mit.edu	37	20	31692670	31692670	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:31692670G>A	ENST00000375483.3	+	14	1735	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	579						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATTCATGCCCGCAATGAACGG	0.572																																						ENST00000375483.3																			0											c.(1735-1737)Gca>Aca		BPI fold containing family B, member 4							137.0	112.0	120.0					20																	31692670		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31692670G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1735G>A	20.37:g.31692670G>A	ENSP00000364632:p.Ala579Thr					BPIFB4_ENST00000494121.1_3'UTR	p.A579T	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			14	1735	+			579					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1735G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	1.909	-0.451146	0.04572	.	.	ENSG00000186191	ENST00000375483	T	0.09163	3.01	4.51	3.55	0.40652	.	0.188895	0.36815	N	0.002391	T	0.09069	0.0224	L	0.38531	1.155	0.09310	N	1	B	0.18863	0.031	B	0.14578	0.011	T	0.28933	-1.0028	10	0.23891	T	0.37	-12.9194	11.6804	0.51455	0.0947:0.0:0.9053:0.0	.	579	P59827	BPIB4_HUMAN	T	579	ENSP00000364632:A579T	ENSP00000364632:A579T	A	+	1	0	BPIFB4	31156331	0.772000	0.28567	0.012000	0.15200	0.119000	0.20118	2.421000	0.44688	0.643000	0.30638	-1.134000	0.01955	GCA		0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		6	44	0	0	0	1	0	6	44				
NFATC1	4772	broad.mit.edu	37	18	77193673	77193673	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr18:77193673C>T	ENST00000427363.2	+	3	1321	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	NFATC1_ENST00000318065.5_Missense_Mutation_p.H428Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H428Y|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H428Y|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000253506.5_Missense_Mutation_p.H441Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H428Y|NFATC1_ENST00000587635.1_Missense_Mutation_p.H441Y			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	441	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)	CCACCGAGCCCACTACGAGAC	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1321-1323)Cac>Tac		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							67.0	69.0	68.0					18																	77193673		2203	4299	6502	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.chr18:77193673C>T	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.1321C>T	18.37:g.77193673C>T	ENSP00000389377:p.His441Tyr					NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H428Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H428Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.H428Y|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000427363.2_Missense_Mutation_p.H441Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H428Y	p.H441Y	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1690	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	441			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1321C>T		.	.	.	.	.	.	.	.	.	.	C	26.8	4.773068	0.90108	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.44083	0.93;0.93;0.93	4.6	4.6	0.57074	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.100795	0.64402	D	0.000002	T	0.68016	0.2955	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.81914	0.984;0.984;0.984;0.995;0.995;0.995;0.984	T	0.75181	-0.3408	10	0.87932	D	0	-30.7726	17.4139	0.87494	0.0:1.0:0.0:0.0	.	428;428;441;441;441;428;441	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	Y	441;441;441;428;428;405	ENSP00000253506:H441Y;ENSP00000442435:H441Y;ENSP00000327850:H428Y	ENSP00000253506:H441Y	H	+	1	0	NFATC1	75294661	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.338000	0.79269	2.097000	0.63578	0.561000	0.74099	CAC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		15	49	0	0	0	1	0	15	49				
MICAL3	57553	broad.mit.edu	37	22	18389389	18389389	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:18389389C>T	ENST00000441493.2	-	2	542	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	MICAL3_ENST00000383094.3_Missense_Mutation_p.A64T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A64T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A64T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A64T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A64T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A64T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A64T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	64	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCCAGAGGGCTTTGGCTTTC	0.502																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(190-192)Gcc>Acc		microtubule associated monooxygenase, calponin and LIM domain containing 3							172.0	158.0	163.0					22																	18389389		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389389C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.190G>A	22.37:g.18389389C>T	ENSP00000416015:p.Ala64Thr					MICAL3_ENST00000207726.7_Missense_Mutation_p.A64T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A64T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A64T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A64T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A64T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A64T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A64T	p.A64T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	542	-		all_epithelial(15;0.198)	64					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.190G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428734	0.96131	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726;ENST00000424046	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.65498	2.005	0.80722	D	1	B;D;P;D;D	0.71674	0.165;0.976;0.863;0.959;0.998	B;P;P;P;D	0.79108	0.045;0.703;0.614;0.749;0.992	T	0.57631	-0.7778	10	0.72032	D	0.01	.	19.6944	0.96019	0.0:1.0:0.0:0.0	.	64;64;64;64;64	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	T	64	ENSP00000416015:A64T;ENSP00000414846:A64T;ENSP00000383406:A64T;ENSP00000410315:A64T;ENSP00000391827:A64T;ENSP00000372574:A64T;ENSP00000207726:A64T;ENSP00000406193:A64T	ENSP00000207726:A64T	A	-	1	0	XXbac-B461K10.4;MICAL3	16769389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.712000	0.92718	0.655000	0.94253	GCC		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			37	108	0	0	0	1	0	37	108				
KHNYN	23351	broad.mit.edu	37	14	24901213	24901213	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:24901213G>A	ENST00000251343.5	+	3	885	c.746G>A	c.(745-747)aGg>aAg	p.R249K	CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.R249K|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.R249K			O15037	KHNYN_HUMAN	KH and NYN domain containing	249							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGGGGAGCAAGGGGAGACACT	0.617											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(745-747)aGg>aAg		KH and NYN domain containing							83.0	83.0	83.0					14																	24901213		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901213G>A	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.746G>A	14.37:g.24901213G>A	ENSP00000251343:p.Arg249Lys		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.R249K|KHNYN_ENST00000553935.1_Missense_Mutation_p.R249K	p.R249K			O15037	KHNYN_HUMAN			3	885	+			249					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.746G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	4.015	0.000166	0.07819	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23348	1.91;1.91;1.91	4.52	2.67	0.31697	.	7739.210000	0.00166	N	0.000000	T	0.20170	0.0485	L	0.29908	0.895	0.19575	N	0.999965	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.21861	-1.0233	10	0.14252	T	0.57	.	6.9654	0.24619	0.2174:0.0:0.7826:0.0	.	290;249	D3DS77;O15037	.;KHNYN_HUMAN	K	249	ENSP00000251343:R249K;ENSP00000451106:R249K;ENSP00000450799:R249K	ENSP00000251343:R249K	R	+	2	0	KHNYN	23971053	0.000000	0.05858	0.045000	0.18777	0.207000	0.24258	0.136000	0.15974	0.362000	0.24319	0.563000	0.77884	AGG		0.617	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			9	55	0	0	0	1	0	9	55				
FAM135B	51059	broad.mit.edu	37	8	139151265	139151265	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:139151265G>T	ENST00000395297.1	-	18	4035	c.3865C>A	c.(3865-3867)Cgc>Agc	p.R1289S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289								p.R1289G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACATTTGCGCAAATCAGCA	0.438										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.R1289G(2)	lung(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3865-3867)Cgc>Agc		family with sequence similarity 135, member B							132.0	127.0	128.0					8																	139151265		1875	4118	5993	SO:0001583	missense	51059							g.chr8:139151265G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3865C>A	8.37:g.139151265G>T	ENSP00000378710:p.Arg1289Ser	HNSCC(54;0.14)					p.R1289S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4035	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3865C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706910	0.89018	.	.	ENSG00000147724	ENST00000395297	T	0.41065	1.01	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.72576	2.205	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.68250	-0.5458	10	0.87932	D	0	-20.3154	18.5599	0.91096	0.0:0.0:1.0:0.0	.	1289	Q49AJ0	F135B_HUMAN	S	1289	ENSP00000378710:R1289S	ENSP00000378710:R1289S	R	-	1	0	FAM135B	139220447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.644000	0.89710	0.655000	0.94253	CGC		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	37	1	0	3.86212e-05	1	4.06362e-05	10	37				
SLC12A5	57468	broad.mit.edu	37	20	44682334	44682334	+	Missense_Mutation	SNP	G	G	A	rs565709821		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:44682334G>A	ENST00000454036.2	+	20	2783	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E889K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	912					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)	TGCGGAGGTCGAGGTGGTGGA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21099	0.001		0.0	False		,,,				2504	0.0					ENST00000454036.1																			0				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						c.(2734-2736)Gag>Aag		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						191.0	164.0	173.0					20																	44682334		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682334G>A	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.2734G>A	20.37:g.44682334G>A	ENSP00000387694:p.Glu912Lys					SLC12A5_ENST00000243964.3_Missense_Mutation_p.E889K	p.E912K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			20	2810	+		Myeloproliferative disorder(115;0.0122)	912					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2734G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758328	0.69763	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.49432	0.78;0.78	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.71581	2.175	0.80722	D	1	P;B	0.34684	0.463;0.411	B;B	0.28011	0.085;0.084	T	0.47355	-0.9124	10	0.27082	T	0.32	.	15.7924	0.78376	0.0:0.0:1.0:0.0	.	912;889	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	K	912;889	ENSP00000387694:E912K;ENSP00000243964:E889K	ENSP00000243964:E889K	E	+	1	0	SLC12A5	44115741	1.000000	0.71417	0.944000	0.38274	0.870000	0.49936	9.596000	0.98267	2.192000	0.70111	0.491000	0.48974	GAG		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			19	86	0	0	0	1	0	19	86				
PHF20L1	51105	broad.mit.edu	37	8	133858144	133858144	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:133858144G>C	ENST00000395386.2	+	21	3329	c.3030G>C	c.(3028-3030)caG>caC	p.Q1010H	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q397H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q985H|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1010							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTACAGCAGATAGCAACTC	0.423																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(3028-3030)caG>caC		PHD finger protein 20-like 1							86.0	78.0	80.0					8																	133858144		1907	4126	6033	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133858144G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.3030G>C	8.37:g.133858144G>C	ENSP00000378784:p.Gln1010His					PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q397H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q985H	p.Q1010H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		21	3329	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		1010					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.3030G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924190	0.52653	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.46451	0.9;0.87	5.27	-6.78	0.01721	.	0.221905	0.28398	U	0.015497	T	0.51449	0.1675	M	0.68593	2.085	0.33606	D	0.602973	D;D	0.57571	0.98;0.966	P;P	0.60415	0.874;0.751	T	0.65553	-0.6140	10	0.87932	D	0	-8.3156	14.9166	0.70801	0.7952:0.0:0.2048:0.0	.	985;1010	F8W9L8;A8MW92	.;P20L1_HUMAN	H	1010;397;985	ENSP00000378784:Q1010H;ENSP00000378788:Q985H	ENSP00000220847:Q397H	Q	+	3	2	PHF20L1	133927326	0.973000	0.33851	0.182000	0.23118	0.975000	0.68041	0.086000	0.14935	-1.266000	0.02446	0.563000	0.77884	CAG		0.423	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		7	32	0	0	0	1	0	7	32				
PHACTR1	221692	broad.mit.edu	37	6	12750005	12750005	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:12750005C>G	ENST00000379350.1	+	3	362	c.233C>G	c.(232-234)tCc>tGc	p.S78C	PHACTR1_ENST00000379348.2_Missense_Mutation_p.S78C|PHACTR1_ENST00000332995.7_Missense_Mutation_p.S78C			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	78					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCAGGATCTCCTTTAACCTG	0.697																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(232-234)tCc>tGc		phosphatase and actin regulator 1							24.0	28.0	27.0					6																	12750005		1837	4064	5901	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:12750005C>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.233C>G	6.37:g.12750005C>G	ENSP00000368655:p.Ser78Cys					PHACTR1_ENST00000379348.2_Missense_Mutation_p.S78C|PHACTR1_ENST00000332995.7_Missense_Mutation_p.S78C	p.S78C			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		3	362	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	78					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.233C>G		.	.	.	.	.	.	.	.	.	.	C	22.6	4.310696	0.81358	.	.	ENSG00000112137	ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	T;T;T	0.47528	0.84;0.84;0.84	4.46	4.46	0.54185	.	0.161832	0.40728	N	0.001025	T	0.46946	0.1419	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.984;0.997;0.984;0.993	T	0.57236	-0.7846	10	0.87932	D	0	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	78;78;78;78	E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.;.;PHAR1_HUMAN;.	C	78	ENSP00000368655:S78C;ENSP00000368653:S78C;ENSP00000329880:S78C	ENSP00000329880:S78C	S	+	2	0	PHACTR1	12857991	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.858000	0.48356	2.004000	0.58718	0.313000	0.20887	TCC		0.697	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	25	0	0	0	1	0	4	25				
CACNG3	10368	broad.mit.edu	37	16	24372741	24372741	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:24372741T>A	ENST00000005284.3	+	4	1707	c.505T>A	c.(505-507)Tcc>Acc	p.S169T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	169					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGCGTGACTCCAAAAAAAG	0.443																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(505-507)Tcc>Acc		calcium channel, voltage-dependent, gamma subunit 3							120.0	131.0	127.0					16																	24372741		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372741T>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.505T>A	16.37:g.24372741T>A	ENSP00000005284:p.Ser169Thr						p.S169T	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1707	+			169						Missense_Mutation	SNP	ENST00000005284.3	37	c.505T>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518381	0.44763	.	.	ENSG00000006116	ENST00000005284	D	0.88586	-2.4	4.96	4.96	0.65561	.	0.166916	0.52532	D	0.000066	D	0.87873	0.6287	N	0.17474	0.49	0.40633	D	0.981873	D	0.65815	0.995	D	0.66497	0.944	D	0.86031	0.1513	10	0.21540	T	0.41	-13.6402	13.4948	0.61419	0.0:0.0:0.0:1.0	.	169	O60359	CCG3_HUMAN	T	169	ENSP00000005284:S169T	ENSP00000005284:S169T	S	+	1	0	CACNG3	24280242	1.000000	0.71417	0.997000	0.53966	0.547000	0.35210	6.002000	0.70693	1.846000	0.53633	0.533000	0.62120	TCC		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		33	122	0	0	0	1	0	33	122				
EVC2	132884	broad.mit.edu	37	4	5576499	5576499	+	Splice_Site	SNP	A	A	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5576499A>C	ENST00000344408.5	-	19	3326	c.3273T>G	c.(3271-3273)tgT>tgG	p.C1091W	EVC2_ENST00000344938.1_Splice_Site_p.C1091W|EVC2_ENST00000310917.2_Splice_Site_p.C1011W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1091					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCTCTCAAACTGGAGTGAA	0.393																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.e19-1		Ellis van Creveld syndrome 2							140.0	128.0	132.0					4																	5576499		2203	4300	6503	SO:0001630	splice_region_variant	132884					integral to membrane		g.chr4:5576499A>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3273-1T>G	4.37:g.5576499A>C						EVC2_ENST00000344408.5_Splice_Site_p.C1091_splice|EVC2_ENST00000344938.1_Splice_Site_p.C1091_splice	p.C1011_splice	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			19	3764	-			1091					Q86YT3|Q86YT4|Q8NG49	Splice_Site	SNP	ENST00000344408.5	37	c.3032_splice	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	A	8.932	0.963623	0.18583	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73897	-0.79;-0.77;-0.78	4.74	-5.65	0.02459	.	0.393067	0.27134	N	0.020775	T	0.42899	0.1223	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	T	0.13683	-1.0500	10	0.66056	D	0.02	.	2.9845	0.05964	0.2297:0.4768:0.1713:0.1222	.	1091	Q86UK5	LBN_HUMAN	W	1091;1011;1091	ENSP00000339954:C1091W;ENSP00000311683:C1011W;ENSP00000342144:C1091W	ENSP00000311683:C1011W	C	-	3	2	EVC2	5627400	0.067000	0.21026	0.000000	0.03702	0.000000	0.00434	-0.104000	0.10923	-1.198000	0.02669	-1.510000	0.00946	TGT		0.393	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	Missense_Mutation	13	47	0	0	0	1	0	13	47				
DAPK3	1613	broad.mit.edu	37	19	3964800	3964800	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:3964800C>T	ENST00000545797.2	-	3	495	c.252G>A	c.(250-252)gaG>gaA	p.E84E	DAPK3_ENST00000301264.3_Silent_p.E84E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCTTGTTCTCGAAGATGT	0.642																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(250-252)gaG>gaA		death-associated protein kinase 3							114.0	113.0	113.0					19																	3964800		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964800C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.252G>A	19.37:g.3964800C>T						DAPK3_ENST00000301264.3_Silent_p.E84E	p.E84E			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	495	-		Hepatocellular(1079;0.137)	84			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.252G>A	CCDS12116.1																																																																																				0.642	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		10	49	0	0	0	1	0	10	49				
CEACAM19	56971	broad.mit.edu	37	19	45175995	45175995	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:45175995G>A	ENST00000403660.3	+	2	393	c.183G>A	c.(181-183)caG>caA	p.Q61Q	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000358777.4_Silent_p.Q61Q|CTB-171A8.1_ENST00000590796.1_RNA			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	61						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ACACCTTCCAGGACTTCAACT	0.567																																						ENST00000358777.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11						c.(181-183)caG>caA		carcinoembryonic antigen-related cell adhesion molecule 19							99.0	73.0	82.0					19																	45175995		2203	4300	6503	SO:0001819	synonymous_variant	56971					integral to membrane		g.chr19:45175995G>A	AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.183G>A	19.37:g.45175995G>A						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.Q61Q	p.Q61Q	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN			2	663	+	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)	61					Q5XJ15|Q7Z693	Silent	SNP	ENST00000403660.3	37	c.183G>A	CCDS12641.1																																																																																				0.567	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323022.1	NM_020219		6	58	0	0	0	1	0	6	58				
ESF1	51575	broad.mit.edu	37	20	13763786	13763786	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:13763786T>A	ENST00000202816.1	-	2	108	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGGATGACATTTTTAATTCT	0.318																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1-3)Atg>Ttg		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							26.0	27.0	27.0					20																	13763786		2189	4227	6416	SO:0001582	initiator_codon_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763786T>A		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1A>T	20.37:g.13763786T>A	ENSP00000202816:p.Met1Leu						p.M1L	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			2	108	-			1					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Translation_Start_Site	SNP	ENST00000202816.1	37	c.1A>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944900	0.73672	.	.	ENSG00000089048	ENST00000202816;ENST00000541185	T	0.22134	1.97	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999999	P	0.35923	0.528	B	0.41412	0.356	T	0.06991	-1.0796	9	0.87932	D	0	.	14.2478	0.65999	0.0:0.0:0.0:1.0	.	1	Q9H501	ESF1_HUMAN	L	1	ENSP00000202816:M1L	ENSP00000202816:M1L	M	-	1	0	ESF1	13711786	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.414000	0.80117	1.834000	0.53371	0.482000	0.46254	ATG		0.318	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	Missense_Mutation	8	33	0	0	0	1	0	8	33				
FADS1	3992	broad.mit.edu	37	11	61580768	61580768	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:61580768G>A	ENST00000350997.7	-	2	665	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_Missense_Mutation_p.L4F|FADS1_ENST00000541683.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Missense_Mutation_p.L4F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	88					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAATCAGGAGAGAGTTCATA	0.522																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(433-435)Ctc>Ttc		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						143.0	151.0	148.0					11																	61580768		2075	4216	6291	SO:0001583	missense	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61580768G>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.433C>T	11.37:g.61580768G>A	ENSP00000322229:p.Leu145Phe					FADS1_ENST00000542506.1_Missense_Mutation_p.L4F|FADS1_ENST00000433932.1_Missense_Mutation_p.L4F|FADS2_ENST00000574708.1_Intron	p.L145F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			2	665	-			88					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	c.433C>T	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086413	0.76642	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607;ENST00000473263	T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;1.68;1.68;1.11;1.12;1.16;1.08;0.23;0.24;0.23	5.43	5.43	0.79202	Cytochrome b5 (5);	.	.	.	.	D	0.83348	0.5235	L	0.37630	1.12	0.42155	D	0.991571	D	0.89917	1.0	D	0.76575	0.988	D	0.84076	0.0382	9	0.72032	D	0.01	-16.6119	9.9014	0.41351	0.1527:0.0:0.8473:0.0	.	88	O60427	FADS1_HUMAN	F	145;4;4;4;4;4;4;4;4;4;4;4;4;4	ENSP00000322229:L145F;ENSP00000405087:L4F;ENSP00000441403:L4F;ENSP00000441871:L4F;ENSP00000442170:L4F;ENSP00000440652:L4F;ENSP00000416043:L4F;ENSP00000443037:L4F;ENSP00000446270:L4F;ENSP00000439790:L4F	ENSP00000322229:L145F	L	-	1	0	FADS1	61337344	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.917000	0.56424	2.716000	0.92895	0.655000	0.94253	CTC		0.522	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		24	112	0	0	0	1	0	24	112				
SUPT7L	9913	broad.mit.edu	37	2	27883959	27883959	+	Missense_Mutation	SNP	G	G	A	rs531573550		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:27883959G>A	ENST00000337768.5	-	3	880	c.311C>T	c.(310-312)tCg>tTg	p.S104L	SUPT7L_ENST00000406540.1_Missense_Mutation_p.S102L|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S102L|SUPT7L_ENST00000404798.2_Intron|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000405491.1_Missense_Mutation_p.S102L	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	104					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CCCAGGGCACGAGGGAAGAGG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20205	0.0		0.0	False		,,,				2504	0.001					ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(310-312)tCg>tTg		suppressor of Ty 7 (S. cerevisiae)-like							116.0	123.0	121.0					2																	27883959		2102	4210	6312	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27883959G>A	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.311C>T	2.37:g.27883959G>A	ENSP00000336750:p.Ser104Leu					SUPT7L_ENST00000405491.1_Missense_Mutation_p.S102L|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S102L|SUPT7L_ENST00000406540.1_Missense_Mutation_p.S102L	p.S104L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN			3	880	-	Acute lymphoblastic leukemia(172;0.155)		104					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.311C>T	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	G	8.017	0.758794	0.15846	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789	.	.	.	4.98	4.98	0.66077	.	0.349316	0.31335	N	0.007825	T	0.21761	0.0524	N	0.12182	0.205	0.28716	N	0.903309	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.09207	-1.0685	9	0.20046	T	0.44	-6.1904	7.8628	0.29520	0.0803:0.0:0.7579:0.1618	.	102;104	O94864-2;O94864	.;ST65G_HUMAN	L	104;102;102;102	.	ENSP00000336750:S104L	S	-	2	0	SUPT7L	27737463	1.000000	0.71417	0.322000	0.25334	0.705000	0.40729	5.111000	0.64628	2.567000	0.86603	0.655000	0.94253	TCG		0.532	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		8	39	0	0	0	1	0	8	39				
SHISA5	51246	broad.mit.edu	37	3	48510907	48510907	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:48510907G>A	ENST00000296444.2	-	5	832	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	SHISA5_ENST00000442747.1_Missense_Mutation_p.P135S|SHISA5_ENST00000426002.1_Missense_Mutation_p.P63S|SHISA5_ENST00000443308.2_Missense_Mutation_p.P159S|SHISA5_ENST00000444115.1_Missense_Mutation_p.P135S|SHISA5_ENST00000465449.1_5'UTR	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	166	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						TAGCTGGGCGGCACACTTGGA	0.597																																						ENST00000296444.2																			0				large_intestine(1)|lung(1)	2						c.(496-498)Ccg>Tcg		shisa family member 5							118.0	108.0	111.0					3																	48510907		2203	4300	6503	SO:0001583	missense	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48510907G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.496C>T	3.37:g.48510907G>A	ENSP00000296444:p.Pro166Ser					SHISA5_ENST00000443308.2_Missense_Mutation_p.P159S|SHISA5_ENST00000442747.1_Missense_Mutation_p.P135S|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Missense_Mutation_p.P63S|SHISA5_ENST00000444115.1_Missense_Mutation_p.P135S	p.P166S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN			5	832	-			166			Pro-rich.		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	c.496C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945922	0.73672	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000426002;ENST00000442747;ENST00000443308	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.05	4.15	0.48705	.	0.345078	0.31404	N	0.007708	T	0.54078	0.1836	M	0.66939	2.045	0.39891	D	0.973778	P;D;D;P	0.60575	0.705;0.985;0.988;0.705	B;P;P;B	0.56163	0.271;0.558;0.793;0.271	T	0.60378	-0.7275	10	0.66056	D	0.02	-21.9716	11.4541	0.50171	0.0:0.1909:0.8091:0.0	.	63;159;166;63	Q8N114-4;F8W9N8;Q8N114;Q8N114-3	.;.;SHSA5_HUMAN;.	S	166;135;63;135;159	ENSP00000296444:P166S;ENSP00000407957:P135S;ENSP00000390388:P63S;ENSP00000408223:P135S;ENSP00000395373:P159S	ENSP00000296444:P166S	P	-	1	0	SHISA5	48485911	0.990000	0.36364	0.937000	0.37676	0.994000	0.84299	2.189000	0.42621	1.207000	0.43291	0.563000	0.77884	CCG		0.597	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479		3	50	0	0	0	1	0	3	50				
MYT1	4661	broad.mit.edu	37	20	62871146	62871146	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:62871146G>A	ENST00000328439.1	+	22	3491	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1070K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAAGAACATCGAGGAGGAGAA	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3208-3210)Gag>Aag		myelin transcription factor 1							95.0	93.0	94.0					20																	62871146		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871146G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3127G>A	20.37:g.62871146G>A	ENSP00000327465:p.Glu1043Lys					MYT1_ENST00000328439.1_Missense_Mutation_p.E1043K	p.E1070K			Q01538	MYT1_HUMAN			22	3572	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1043					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3208G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907830	0.92107	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.58652	0.36;0.32	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.79258	2.445	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.57776	0.764;0.827	T	0.77773	-0.2462	10	0.87932	D	0	-27.1338	19.7465	0.96253	0.0:0.0:1.0:0.0	.	1070;1043	F5H7M8;Q01538	.;MYT1_HUMAN	K	1043;1070	ENSP00000327465:E1043K;ENSP00000442412:E1070K	ENSP00000327465:E1043K	E	+	1	0	MYT1	62341590	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	7.733000	0.84916	2.680000	0.91292	0.561000	0.74099	GAG		0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		15	66	0	0	0	1	0	15	66				
USH2A	7399	broad.mit.edu	37	1	216061956	216061956	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216061956G>T	ENST00000307340.3	-	41	8421	c.8035C>A	c.(8035-8037)Cat>Aat	p.H2679N	USH2A_ENST00000366943.2_Missense_Mutation_p.H2679N|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2679	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCATGGAATGACTCCTCGGG	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8035-8037)Cat>Aat		Usher syndrome 2A (autosomal recessive, mild)							89.0	92.0	91.0					1																	216061956		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061956G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8035C>A	1.37:g.216061956G>T	ENSP00000305941:p.His2679Asn	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.H2679N|RP5-1111A8.3_ENST00000414995.1_RNA	p.H2679N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8421	-			2679			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8035C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537181	0.27475	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57107	0.42;0.42	5.84	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.325604	0.22141	N	0.064042	T	0.48642	0.1511	L	0.48362	1.52	0.09310	N	1	P	0.47484	0.896	P	0.46510	0.519	T	0.36866	-0.9730	10	0.12766	T	0.61	.	12.3717	0.55258	0.0:0.1286:0.7379:0.1336	.	2679	O75445	USH2A_HUMAN	N	2679	ENSP00000305941:H2679N;ENSP00000355910:H2679N	ENSP00000305941:H2679N	H	-	1	0	USH2A	214128579	1.000000	0.71417	0.029000	0.17559	0.824000	0.46624	3.299000	0.51826	1.410000	0.46936	0.655000	0.94253	CAT		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	38	1	0	2.74318e-10	1	3.0175e-10	9	38				
CCDC125	202243	broad.mit.edu	37	5	68599697	68599697	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:68599697T>C	ENST00000396496.2	-	7	784	c.677A>G	c.(676-678)aAa>aGa	p.K226R	CCDC125_ENST00000511257.1_Missense_Mutation_p.K101R|CCDC125_ENST00000383374.2_Missense_Mutation_p.K225R|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.K226R			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	226						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTTCAGCATTTTAATTTCTTC	0.279																																						ENST00000396496.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19						c.(676-678)aAa>aGa		coiled-coil domain containing 125							134.0	127.0	129.0					5																	68599697		2201	4298	6499	SO:0001583	missense	202243					cytoplasm		g.chr5:68599697T>C	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.677A>G	5.37:g.68599697T>C	ENSP00000379754:p.Lys226Arg					CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.K225R|CCDC125_ENST00000511257.1_Missense_Mutation_p.K101R|CCDC125_ENST00000396499.1_Missense_Mutation_p.K226R	p.K226R			Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	7	784	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	226					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.677A>G	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826641	0.50739	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.75	4.6	0.57074	.	0.214980	0.47852	D	0.000216	T	0.52273	0.1724	M	0.78049	2.395	0.29818	N	0.831072	B;B	0.29232	0.238;0.082	B;B	0.27380	0.079;0.039	T	0.54892	-0.8225	10	0.42905	T	0.14	-15.4292	10.6852	0.45839	0.0:0.0755:0.0:0.9245	.	101;226	Q86Z20-2;Q86Z20	.;CC125_HUMAN	R	226;226;225;101	ENSP00000379754:K226R;ENSP00000379756:K226R;ENSP00000372865:K225R;ENSP00000426795:K101R	ENSP00000372865:K225R	K	-	2	0	CCDC125	68635453	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.094000	0.41719	1.029000	0.39812	0.529000	0.55759	AAA		0.279	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		6	13	0	0	0	1	0	6	13				
RNASE2	6036	broad.mit.edu	37	14	21424015	21424015	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:21424015C>T	ENST00000304625.2	+	2	175	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	29					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCATGTCAAACCTCCACAGTT	0.453																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(85-87)Cct>Tct		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							77.0	77.0	77.0					14																	21424015		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424015C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.85C>T	14.37:g.21424015C>T	ENSP00000303276:p.Pro29Ser						p.P29S	NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	175	+	all_cancers(95;0.00381)		29					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.85C>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.837227	0.32513	.	.	ENSG00000169385	ENST00000304625	T	0.14893	2.47	2.0	1.09	0.20402	Ribonuclease A, domain (1);	0.246767	0.23537	U	0.047105	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05225	-1.0898	10	0.56958	D	0.05	.	4.4015	0.11388	0.0:0.7963:0.0:0.2037	.	29	P10153	RNAS2_HUMAN	S	29	ENSP00000303276:P29S	ENSP00000303276:P29S	P	+	1	0	RNASE2	20493855	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.634000	0.05477	0.415000	0.25817	0.455000	0.32223	CCT		0.453	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			9	66	0	0	0	1	0	9	66				
SLC4A4	8671	broad.mit.edu	37	4	72316105	72316105	+	Splice_Site	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:72316105G>T	ENST00000264485.5	+	10	1170		c.e10-1		SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000514331.1_Splice_Site|SLC4A4_ENST00000512686.1_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTATTCTTTAGGTGTTCCATG	0.408																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e7-1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							76.0	75.0	75.0					4																	72316105		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316105G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1054-1G>T	4.37:g.72316105G>T						SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000514331.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000512686.1_Splice_Site		NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		7	1117	+								C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37		CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693960	0.88735	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1027	0.97880	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72534969	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	9.830000	0.99415	2.756000	0.94617	0.655000	0.94253	.		0.408	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron	4	33	1	0	0.184627	1	0.184627	4	33				
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:7578196A>C	ENST00000269305.4	-	6	842	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000420246.2_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(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)	CTCATAGGGCACCACCACACT	0.552		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)	ENST00000420246.2		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"""		50	Substitution - Missense(16)|Unknown(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)	oesophagus(7)|endometrium(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(3)|liver(3)|lung(3)|ovary(3)|stomach(2)|large_intestine(2)|cervix(1)|urinary_tract(1)|breast(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	GRCh37	CI084336	TP53	I		c.(652-654)gTg>gGg	Other conserved DNA damage response genes	tumor protein p53							116.0	105.0	109.0					17																	7578196		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578196A>C	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.653T>G	17.37:g.7578196A>C	ENSP00000269305:p.Val218Gly	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_ENST00000269305.4_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron	p.V218G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	785	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	218		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.653T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438634	0.83885	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.28	5.28	0.74379	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	0.99896	0.9950	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96088	0.9059	10	0.87932	D	0	-6.4964	13.4753	0.61306	1.0:0.0:0.0:0.0	.	179;218;218;125;218;218;218	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	218;218;218;218;218;218;207;125;86;125	ENSP00000410739:V218G;ENSP00000352610:V218G;ENSP00000269305:V218G;ENSP00000398846:V218G;ENSP00000391127:V218G;ENSP00000391478:V218G;ENSP00000425104:V86G;ENSP00000423862:V125G	ENSP00000269305:V218G	V	-	2	0	TP53	7518921	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	20	0	0	0	1	0	5	20				
MRPL44	65080	broad.mit.edu	37	2	224824372	224824372	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:224824372G>A	ENST00000258383.3	+	2	370	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	101	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATTAAAAGTGAGGAGGCCAA	0.368																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(301-303)Gag>Aag		mitochondrial ribosomal protein L44							68.0	73.0	71.0					2																	224824372		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224824372G>A	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.301G>A	2.37:g.224824372G>A	ENSP00000258383:p.Glu101Lys						p.E101K	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	370	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	101			RNase III.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.301G>A	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976188	0.92982	.	.	ENSG00000135900	ENST00000258383	T	0.77877	-1.13	5.6	5.6	0.85130	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	L	0.60067	1.865	0.80722	D	1	D	0.69078	0.997	D	0.64321	0.924	D	0.84421	0.0571	10	0.45353	T	0.12	-1.7396	17.1162	0.86689	0.0:0.0:1.0:0.0	.	101	Q9H9J2	RM44_HUMAN	K	101	ENSP00000258383:E101K	ENSP00000258383:E101K	E	+	1	0	MRPL44	224532616	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.220000	0.95180	2.630000	0.89119	0.655000	0.94253	GAG		0.368	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		10	54	0	0	0	1	0	10	54				
MUC16	94025	broad.mit.edu	37	19	9006365	9006365	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:9006365C>A	ENST00000397910.4	-	45	39856	c.39653G>T	c.(39652-39654)gGc>gTc	p.G13218V	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13220	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCTGCAGCCAGAATACAG	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39652-39654)gGc>gTc		mucin 16, cell surface associated							104.0	84.0	91.0					19																	9006365		2000	4175	6175	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006365C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39653G>T	19.37:g.9006365C>A	ENSP00000381008:p.Gly13218Val						p.G13218V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39856	-			13220			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39653G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.47|13.47	2.246004|2.246004	0.39697|0.39697	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.39406	.|1.08	2.73|2.73	1.68|1.68	0.24146|0.24146	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.63838|0.63838	0.2545|0.2545	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|P;D	.|0.76494	.|0.946;0.999	.|P;D	.|0.83275	.|0.775;0.996	T|T	0.68716|0.68716	-0.5335|-0.5335	4|8	.|0.87932	.|D	.|0	-8.3471|-8.3471	5.4778|5.4778	0.16706|0.16706	0.0:0.8394:0.0:0.1606|0.0:0.8394:0.0:0.1606	.|.	.|20863;13218	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|V	58|13218;349	.|ENSP00000381008:G13218V	.|ENSP00000381008:G13218V	A|G	-|-	1|2	0|0	MUC16|MUC16	8867365|8867365	0.218000|0.218000	0.23608|0.23608	0.613000|0.613000	0.29037|0.29037	0.009000|0.009000	0.06853|0.06853	1.070000|1.070000	0.30653|0.30653	0.695000|0.695000	0.31675|0.31675	0.305000|0.305000	0.20034|0.20034	GCT|GGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	77	1	0	0.014758	1	0.0152625	4	77				
VPS13A	23230	broad.mit.edu	37	9	79853232	79853232	+	Missense_Mutation	SNP	G	G	T	rs113804310		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:79853232G>T	ENST00000360280.3	+	19	2090	c.1830G>T	c.(1828-1830)gaG>gaT	p.E610D	VPS13A_ENST00000357409.5_Missense_Mutation_p.E610D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E610D|VPS13A_ENST00000376634.4_Missense_Mutation_p.E610D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	610					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCAAAAGAGGTACATCTAG	0.343																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1828-1830)gaG>gaT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							72.0	73.0	73.0					9																	79853232		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79853232G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1830G>T	9.37:g.79853232G>T	ENSP00000353422:p.Glu610Asp					VPS13A_ENST00000376634.4_Missense_Mutation_p.E610D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E610D|VPS13A_ENST00000357409.5_Missense_Mutation_p.E610D	p.E610D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			19	2090	+			610					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1830G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250044	0.05867	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.44	-8.59	0.00893	.	0.384485	0.27715	N	0.018149	T	0.08268	0.0206	N	0.01789	-0.72	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.29181	-1.0020	10	0.12766	T	0.61	.	6.905	0.24303	0.1635:0.0662:0.1243:0.6459	.	610;610;610;610	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	610	ENSP00000365821:E610D;ENSP00000365823:E610D;ENSP00000353422:E610D;ENSP00000349985:E610D	ENSP00000349985:E610D	E	+	3	2	VPS13A	79043052	0.021000	0.18746	0.499000	0.27577	0.892000	0.51952	-0.940000	0.03929	-1.359000	0.02174	-0.291000	0.09656	GAG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		8	52	1	0	1.12685e-05	1	1.19604e-05	8	52				
KALRN	8997	broad.mit.edu	37	3	123946894	123946894	+	Missense_Mutation	SNP	A	A	C	rs36107295		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:123946894A>C	ENST00000240874.3	+	2	282	c.125A>C	c.(124-126)aAg>aCg	p.K42T	KALRN_ENST00000360013.3_Missense_Mutation_p.K42T|KALRN_ENST00000460856.1_Missense_Mutation_p.K42T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	42	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						CTAAAGGAAAAGGTGGCCTTC	0.448																																						ENST00000360013.3																			0				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						c.(124-126)aAg>aCg		kalirin, RhoGEF kinase							263.0	251.0	255.0					3																	123946894		2203	4300	6503	SO:0001583	missense	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.chr3:123946894A>C	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	ENST00000240874.3:c.125A>C	3.37:g.123946894A>C	ENSP00000240874:p.Lys42Thr					KALRN_ENST00000460856.1_Missense_Mutation_p.K42T|KALRN_ENST00000240874.3_Missense_Mutation_p.K42T	p.K42T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			2	252	+			42			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.125A>C	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766324	0.69878	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	D;D;D	0.83992	-1.79;-1.79;-1.79	5.12	5.12	0.69794	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	M	0.76002	2.32	0.80722	D	1	P;D;P	0.76494	0.786;0.999;0.746	P;D;P	0.85130	0.685;0.997;0.557	D	0.91455	0.5184	10	0.66056	D	0.02	.	15.0706	0.72034	1.0:0.0:0.0:0.0	.	42;42;42	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	T	42	ENSP00000418611:K42T;ENSP00000240874:K42T;ENSP00000353109:K42T	ENSP00000240874:K42T	K	+	2	0	KALRN	125429584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.147000	0.66899	0.528000	0.53228	AAG		0.448	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		25	123	0	0	0	1	0	25	123				
NPHS1	4868	broad.mit.edu	37	19	36332691	36332691	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:36332691T>C	ENST00000378910.5	-	20	2740	c.2741A>G	c.(2740-2742)gAt>gGt	p.D914G	NPHS1_ENST00000353632.6_Missense_Mutation_p.D914G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	914	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGCGTAATCCTGGGCGGC	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2740-2742)gAt>gGt		nephrosis 1, congenital, Finnish type (nephrin)							236.0	168.0	191.0					19																	36332691		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36332691T>C		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2741A>G	19.37:g.36332691T>C	ENSP00000368190:p.Asp914Gly					NPHS1_ENST00000353632.6_Missense_Mutation_p.D914G	p.D914G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		20	2740	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		914			Ig-like C2-type 8.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2741A>G	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591520	0.66219	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.81739	-1.53;-1.53	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92325	0.7565	H	0.96048	3.76	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.94124	0.7382	10	0.87932	D	0	-19.4267	12.3602	0.55199	0.0:0.0:0.0:1.0	.	914	O60500	NPHN_HUMAN	G	914	ENSP00000368190:D914G;ENSP00000343634:D914G	ENSP00000343634:D914G	D	-	2	0	NPHS1	41024531	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	5.647000	0.67923	2.030000	0.59900	0.456000	0.33151	GAT		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			4	35	0	0	0	1	0	4	35				
TYRO3	7301	broad.mit.edu	37	15	41859694	41859694	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:41859694C>T	ENST00000263798.3	+	7	1144	c.920C>T	c.(919-921)tCt>tTt	p.S307F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S262F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	307	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTGGGGCCCTCTCCCTATGCT	0.647																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(919-921)tCt>tTt		TYRO3 protein tyrosine kinase							92.0	91.0	92.0					15																	41859694		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41859694C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.920C>T	15.37:g.41859694C>T	ENSP00000263798:p.Ser307Phe					TYRO3_ENST00000559066.1_Missense_Mutation_p.S262F	p.S307F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1144	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	307			Fibronectin type-III 1.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.920C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436678	0.83885	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.60548	0.18	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000798	T	0.76392	0.3981	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80185	-0.1487	10	0.87932	D	0	-15.1924	14.5246	0.67878	0.0:1.0:0.0:0.0	.	307	Q06418	TYRO3_HUMAN	F	239;307	ENSP00000263798:S307F	ENSP00000263798:S307F	S	+	2	0	TYRO3	39646986	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.791000	0.69045	2.417000	0.82017	0.655000	0.94253	TCT		0.647	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			21	99	0	0	0	1	0	21	99				
HPS5	11234	broad.mit.edu	37	11	18327881	18327881	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:18327881T>C	ENST00000349215.3	-	7	902	c.625A>G	c.(625-627)Aaa>Gaa	p.K209E	HPS5_ENST00000531848.1_Missense_Mutation_p.K95E|HPS5_ENST00000438420.2_Missense_Mutation_p.K95E|HPS5_ENST00000396253.3_Missense_Mutation_p.K95E	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	209					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTCCAATTTTCCAAAACTTT	0.398									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(283-285)Aaa>Gaa		Hermansky-Pudlak syndrome 5							63.0	63.0	63.0					11																	18327881		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18327881T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.625A>G	11.37:g.18327881T>C	ENSP00000265967:p.Lys209Glu					HPS5_ENST00000438420.2_Missense_Mutation_p.K95E|HPS5_ENST00000531848.1_Missense_Mutation_p.K95E|HPS5_ENST00000349215.3_Missense_Mutation_p.K209E	p.K95E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			6	745	-			209					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.283A>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274523	0.59649	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.57273	0.41;0.41;0.43;1.48	5.17	5.17	0.71159	.	0.099641	0.64402	D	0.000002	T	0.51295	0.1666	L	0.56769	1.78	0.51233	D	0.999917	P	0.36789	0.57	B	0.36092	0.217	T	0.58002	-0.7713	10	0.66056	D	0.02	.	15.1647	0.72814	0.0:0.0:0.0:1.0	.	209	Q9UPZ3	HPS5_HUMAN	E	95;95;209;95	ENSP00000379552:K95E;ENSP00000399590:K95E;ENSP00000265967:K209E;ENSP00000431758:K95E	ENSP00000265967:K209E	K	-	1	0	HPS5	18284457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.121000	0.71602	2.168000	0.68352	0.477000	0.44152	AAA		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		5	30	0	0	0	1	0	5	30				
MRPL40	64976	broad.mit.edu	37	22	19423198	19423198	+	Missense_Mutation	SNP	G	G	C	rs369807792		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:19423198G>C	ENST00000333130.3	+	4	987	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	112					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGAGGAGACTGAGAGGAGAGC	0.522																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(334-336)Gag>Cag		mitochondrial ribosomal protein L40							209.0	216.0	214.0					22																	19423198		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423198G>C	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.334G>C	22.37:g.19423198G>C	ENSP00000333401:p.Glu112Gln					HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000471259.1_3'UTR	p.E112Q	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	987	+	Colorectal(54;0.0993)		112					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.334G>C	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464459	0.84425	.	.	ENSG00000185608	ENST00000333130	T	0.49432	0.78	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76769	-0.2837	10	0.87932	D	0	-21.5185	18.9768	0.92740	0.0:0.0:1.0:0.0	.	112	Q9NQ50	RM40_HUMAN	Q	112	ENSP00000333401:E112Q	ENSP00000333401:E112Q	E	+	1	0	MRPL40	17803198	1.000000	0.71417	0.142000	0.22268	0.925000	0.55904	8.721000	0.91446	2.700000	0.92200	0.563000	0.77884	GAG		0.522	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		37	198	0	0	0	1	0	37	198				
TRABD	80305	broad.mit.edu	37	22	50636403	50636403	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:50636403G>A	ENST00000303434.4	+	8	942	c.823G>A	c.(823-825)Gag>Aag	p.E275K	RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Missense_Mutation_p.E275K|TRABD_ENST00000395827.1_Missense_Mutation_p.E275K|TRABD_ENST00000395829.1_Missense_Mutation_p.E275K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	275										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCGGCGCCTCGAGCTGCCTCG	0.692																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(823-825)Gag>Aag		TraB domain containing							68.0	59.0	62.0					22																	50636403		2203	4298	6501	SO:0001583	missense	80305							g.chr22:50636403G>A	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.823G>A	22.37:g.50636403G>A	ENSP00000305664:p.Glu275Lys					TRABD_ENST00000395829.1_Missense_Mutation_p.E275K|TRABD_ENST00000380909.4_Missense_Mutation_p.E275K|TRABD_ENST00000395827.1_Missense_Mutation_p.E275K	p.E275K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	8	942	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	275					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	c.823G>A	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600612	0.87055	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	L	0.55481	1.735	0.80722	D	1	P;D	0.76494	0.898;0.999	B;D	0.66497	0.296;0.944	T	0.66093	-0.6009	9	0.08381	T	0.77	-51.0827	18.1891	0.89802	0.0:0.0:1.0:0.0	.	229;275	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	K	275	.	ENSP00000305664:E275K	E	+	1	0	TRABD	48978530	1.000000	0.71417	0.932000	0.37286	0.027000	0.11550	9.170000	0.94795	2.287000	0.76781	0.561000	0.74099	GAG		0.692	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		14	59	0	0	0	1	0	14	59				
OR2A25	392138	broad.mit.edu	37	7	143771514	143771514	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:143771514G>A	ENST00000408898.2	+	1	240	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTGGCGGTCGTCGACATCGC	0.577																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(202-204)Gtc>Atc		olfactory receptor, family 2, subfamily A, member 25							78.0	79.0	79.0					7																	143771514		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771514G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.202G>A	7.37:g.143771514G>A	ENSP00000386167:p.Val68Ile						p.V68I	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	240	+	Melanoma(164;0.0783)		68					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.202G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	0.478	-0.881252	0.02530	.	.	ENSG00000221933	ENST00000408898	T	0.02916	4.11	4.88	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01454	0.0047	N	0.16478	0.41	0.09310	N	1	P	0.48640	0.913	B	0.31869	0.137	T	0.50448	-0.8827	9	0.35671	T	0.21	-4.9238	4.3108	0.10969	0.2697:0.1672:0.5631:0.0	.	68	A4D2G3	O2A25_HUMAN	I	68	ENSP00000386167:V68I	ENSP00000386167:V68I	V	+	1	0	OR2A25	143402447	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.459000	0.02370	0.263000	0.21812	0.563000	0.77884	GTC		0.577	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			13	57	0	0	0	1	0	13	57				
GALNT2	2590	broad.mit.edu	37	1	230391092	230391092	+	Splice_Site	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:230391092T>C	ENST00000366672.4	+	11	1208		c.e11+2		GALNT2_ENST00000543760.1_Splice_Site|GALNT2_ENST00000541865.1_Splice_Site	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2						cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTGCCCGGTAAGTAGTGAA	0.577																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.e11+2		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							114.0	89.0	98.0					1																	230391092		2203	4300	6503	SO:0001630	splice_region_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391092T>C	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1136+2T>C	1.37:g.230391092T>C						GALNT2_ENST00000543760.1_Splice_Site|GALNT2_ENST00000541865.1_Splice_Site		NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			11	1208	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)						A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Splice_Site	SNP	ENST00000366672.4	37		CCDS1582.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767814	0.69878	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291;ENST00000541865	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6605	0.68868	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT2	228457715	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.024000	0.88770	1.877000	0.54381	0.460000	0.39030	.		0.577	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	Intron	4	34	0	0	0	1	0	4	34				
ZNF681	148213	broad.mit.edu	37	19	23927938	23927938	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:23927938C>A	ENST00000402377.3	-	4	555	c.414G>T	c.(412-414)caG>caT	p.Q138H	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q69H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	138					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATTTTGCTCTGGGTAGTTG	0.294																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(412-414)caG>caT		zinc finger protein 681							43.0	43.0	43.0					19																	23927938		2202	4298	6500	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927938C>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.414G>T	19.37:g.23927938C>A	ENSP00000384000:p.Gln138His					ZNF681_ENST00000395385.3_Missense_Mutation_p.Q69H	p.Q138H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	555	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	138					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.414G>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	8.227	0.803869	0.16467	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.15372	3.25;3.02;2.43;6.39	1.27	-0.807	0.10872	.	.	.	.	.	T	0.12135	0.0295	L	0.45137	1.4	0.09310	N	1	B	0.30439	0.279	B	0.29176	0.099	T	0.29305	-1.0016	9	0.72032	D	0.01	.	2.5764	0.04807	0.0:0.4404:0.3176:0.2421	.	138	Q96N22	ZN681_HUMAN	H	138;69;69;69	ENSP00000384000:Q138H;ENSP00000378783:Q69H;ENSP00000433806:Q69H;ENSP00000435824:Q69H	ENSP00000378783:Q69H	Q	-	3	2	ZNF681	23719778	0.040000	0.19996	0.029000	0.17559	0.153000	0.21895	0.603000	0.24149	-0.369000	0.08028	0.313000	0.20887	CAG		0.294	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	17	1	0	0.115264	1	0.116225	3	17				
ZNF311	282890	broad.mit.edu	37	6	28963925	28963925	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:28963925T>C	ENST00000377179.3	-	7	1366	c.854A>G	c.(853-855)aAg>aGg	p.K285R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTTCTGGTCTTGAATGCTTT	0.438																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(853-855)aAg>aGg		zinc finger protein 311							76.0	85.0	82.0					6																	28963925		1510	2708	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963925T>C	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.854A>G	6.37:g.28963925T>C	ENSP00000366384:p.Lys285Arg					ZNF311_ENST00000483450.1_5'UTR	p.K285R	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1366	-			285					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.854A>G	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	2.186	-0.386474	0.04966	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.20881	2.04	3.55	-0.181	0.13291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.04162	-0.26	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.48681	-0.9014	9	0.15952	T	0.53	-8.6943	6.5256	0.22299	0.0:0.4896:0.0:0.5104	.	285	Q5JNZ3	ZN311_HUMAN	R	285;193	ENSP00000366384:K285R	ENSP00000366384:K285R	K	-	2	0	ZNF311	29071904	0.000000	0.05858	0.961000	0.40146	0.963000	0.63663	-2.555000	0.00925	0.085000	0.17107	0.397000	0.26171	AAG		0.438	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		8	56	0	0	0	1	0	8	56				
HDLBP	3069	broad.mit.edu	37	2	242174939	242174939	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:242174939C>T	ENST00000391975.1	-	22	3202	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	HDLBP_ENST00000427183.2_Missense_Mutation_p.G959E|HDLBP_ENST00000310931.4_Missense_Mutation_p.G992E|HDLBP_ENST00000391976.2_Missense_Mutation_p.G992E	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	992	KH 12. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATCCCACTTCCTTTCTGCCC	0.552																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2974-2976)gGa>gAa		high density lipoprotein binding protein							267.0	212.0	230.0					2																	242174939		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242174939C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2975G>A	2.37:g.242174939C>T	ENSP00000375836:p.Gly992Glu					HDLBP_ENST00000310931.4_Missense_Mutation_p.G992E|HDLBP_ENST00000427183.2_Missense_Mutation_p.G959E|HDLBP_ENST00000391976.2_Missense_Mutation_p.G992E	p.G992E	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	22	3202	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	992			KH 12.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2975G>A	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890925	0.72524	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.79	5.79	0.91817	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.996;1.0	D	0.89232	0.3578	10	0.59425	D	0.04	-35.0101	20.0367	0.97561	0.0:1.0:0.0:0.0	.	959;992	E7EM71;Q00341	.;VIGLN_HUMAN	E	992;992;992;959	ENSP00000375836:G992E;ENSP00000375837:G992E;ENSP00000312042:G992E;ENSP00000399139:G959E	ENSP00000312042:G992E	G	-	2	0	HDLBP	241823612	1.000000	0.71417	0.513000	0.27749	0.117000	0.20001	7.755000	0.85180	2.741000	0.93983	0.557000	0.71058	GGA		0.552	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		15	61	0	0	0	1	0	15	61				
PLEC	5339	broad.mit.edu	37	8	144991442	144991442	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:144991442T>A	ENST00000322810.4	-	32	13127	c.12958A>T	c.(12958-12960)Atc>Ttc	p.I4320F	PLEC_ENST00000527096.1_Missense_Mutation_p.I4206F|PLEC_ENST00000345136.3_Missense_Mutation_p.I4183F|PLEC_ENST00000398774.2_Missense_Mutation_p.I4151F|PLEC_ENST00000354958.2_Missense_Mutation_p.I4161F|PLEC_ENST00000357649.2_Missense_Mutation_p.I4187F|PLEC_ENST00000436759.2_Missense_Mutation_p.I4210F|PLEC_ENST00000356346.3_Missense_Mutation_p.I4169F|PLEC_ENST00000354589.3_Missense_Mutation_p.I4183F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4320	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGGAGGAGATGGTGATCTCC	0.607																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12958-12960)Atc>Ttc		plectin							64.0	71.0	69.0					8																	144991442		2123	4218	6341	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991442T>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12958A>T	8.37:g.144991442T>A	ENSP00000323856:p.Ile4320Phe					PLEC_ENST00000354958.2_Missense_Mutation_p.I4161F|PLEC_ENST00000354589.3_Missense_Mutation_p.I4183F|PLEC_ENST00000357649.2_Missense_Mutation_p.I4187F|PLEC_ENST00000398774.2_Missense_Mutation_p.I4151F|PLEC_ENST00000345136.3_Missense_Mutation_p.I4183F|PLEC_ENST00000356346.3_Missense_Mutation_p.I4169F|PLEC_ENST00000436759.2_Missense_Mutation_p.I4210F|PLEC_ENST00000527096.1_Missense_Mutation_p.I4206F	p.I4320F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13127	-			4320			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12958A>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863723	0.32884	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.24	5.24	0.73138	.	0.318707	0.23694	U	0.045485	T	0.66925	0.2839	L	0.34521	1.04	0.43304	D	0.995301	D;D;D;P;D;D;D;D	0.54601	0.967;0.967;0.967;0.944;0.967;0.967;0.967;0.967	P;P;P;P;P;P;P;P	0.52217	0.693;0.693;0.693;0.497;0.693;0.693;0.693;0.693	T	0.71374	-0.4612	10	0.87932	D	0	.	14.9734	0.71251	0.0:0.0:0.0:1.0	.	4210;4169;4161;4320;4151;4183;4187;4183	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	F	4183;4187;4183;4151;4320;4161;4169;4210;4206	ENSP00000344848:I4183F;ENSP00000350277:I4187F;ENSP00000346602:I4183F;ENSP00000381756:I4151F;ENSP00000323856:I4320F;ENSP00000347044:I4161F;ENSP00000348702:I4169F;ENSP00000388180:I4210F;ENSP00000434583:I4206F	ENSP00000323856:I4320F	I	-	1	0	PLEC	145063430	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.051000	0.71072	2.201000	0.70794	0.448000	0.29417	ATC		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	54	0	0	0	1	0	12	54				
DGKD	8527	broad.mit.edu	37	2	234343483	234343483	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:234343483G>A	ENST00000264057.2	+	5	534	c.522G>A	c.(520-522)ccG>ccA	p.P174P	DGKD_ENST00000409813.3_Silent_p.P130P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	174					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACGCGAGGCCGACCTACTGCA	0.562																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(520-522)ccG>ccA		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						190.0	164.0	173.0					2																	234343483		2203	4300	6503	SO:0001819	synonymous_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234343483G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.522G>A	2.37:g.234343483G>A						DGKD_ENST00000409813.3_Silent_p.P130P	p.P174P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	5	534	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	174					Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	c.522G>A	CCDS2504.1																																																																																				0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		17	85	0	0	0	1	0	17	85				
UBXN7	26043	broad.mit.edu	37	3	196089375	196089375	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:196089375C>T	ENST00000296328.4	-	9	1092	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	UBXN7_ENST00000428095.1_Missense_Mutation_p.E178K|UBXN7_ENST00000535858.1_Missense_Mutation_p.E192K	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	340	Poly-Glu.					Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCTCTACCTCTTCTTCTTCA	0.458																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(1018-1020)Gag>Aag		UBX domain protein 7							89.0	84.0	86.0					3																	196089375		1845	4104	5949	SO:0001583	missense	26043						protein binding	g.chr3:196089375C>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1018G>A	3.37:g.196089375C>T	ENSP00000296328:p.Glu340Lys					UBXN7_ENST00000535858.1_Missense_Mutation_p.E192K|UBXN7_ENST00000428095.1_Missense_Mutation_p.E178K	p.E340K	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			9	1092	-			340			Poly-Glu.		D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.1018G>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764011	0.31228	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.79	5.79	0.91817	.	0.279161	0.40302	N	0.001131	T	0.41373	0.1156	N	0.08118	0	0.51012	D	0.999901	B	0.19817	0.039	B	0.19391	0.025	T	0.21075	-1.0256	9	0.30078	T	0.28	-13.7901	19.025	0.92929	0.0:1.0:0.0:0.0	.	340	O94888	UBXN7_HUMAN	K	340;178;192	.	ENSP00000296328:E340K	E	-	1	0	UBXN7	197573772	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.418000	0.52721	2.735000	0.93741	0.563000	0.77884	GAG		0.458	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		18	125	0	0	0	1	0	18	125				
QSER1	79832	broad.mit.edu	37	11	32953741	32953741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:32953741C>T	ENST00000399302.2	+	4	885	c.550C>T	c.(550-552)Cga>Tga	p.R184*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	184	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCTCTTCTTCGAGAATGTAG	0.453																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(550-552)Cga>Tga		glutamine and serine rich 1							114.0	105.0	108.0					11																	32953741		1888	4112	6000	SO:0001587	stop_gained	79832							g.chr11:32953741C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.550C>T	11.37:g.32953741C>T	ENSP00000382241:p.Arg184*					QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	885	+	Breast(20;0.158)		184			Ser-rich.		Q6ZU30|Q6ZUR5	Nonsense_Mutation	SNP	ENST00000399302.2	37	c.550C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	37	6.453755	0.97581	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	.	.	.	5.18	5.18	0.71444	.	0.000000	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000078652:R184X	R	+	1	2	QSER1	32910317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.916000	0.48813	2.579000	0.87056	0.655000	0.94253	CGA		0.453	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		11	91	0	0	0	1	0	11	91				
DOPEY1	23033	broad.mit.edu	37	6	83847134	83847134	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:83847134G>A	ENST00000349129.2	+	21	3633	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1116K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1106K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1125					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTGAGTTACGAAGTTGATCC	0.448																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(3373-3375)Gaa>Aaa		dopey family member 1							71.0	69.0	70.0					6																	83847134		2203	4298	6501	SO:0001583	missense	23033				protein transport			g.chr6:83847134G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3373G>A	6.37:g.83847134G>A	ENSP00000195654:p.Glu1125Lys					DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1106K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1116K	p.E1125K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3633	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1125					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3373G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269235	0.23221	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.27104	1.69;1.7	5.69	5.69	0.88448	.	0.203042	0.51477	D	0.000094	T	0.09202	0.0227	N	0.24115	0.695	0.80722	D	1	P;P;P	0.45428	0.858;0.826;0.826	B;B;B	0.34346	0.18;0.086;0.086	T	0.09618	-1.0666	10	0.23302	T	0.38	.	19.8089	0.96540	0.0:0.0:1.0:0.0	.	1016;1116;1125	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	1125;1106;1106	ENSP00000195654:E1125K;ENSP00000237163:E1106K	ENSP00000237163:E1106K	E	+	1	0	DOPEY1	83903853	1.000000	0.71417	0.987000	0.45799	0.831000	0.47069	7.627000	0.83176	2.677000	0.91161	0.460000	0.39030	GAA		0.448	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		11	40	0	0	0	1	0	11	40				
DLD	1738	broad.mit.edu	37	7	107543983	107543983	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:107543983G>A	ENST00000205402.5	+	5	609	c.328G>A	c.(328-330)Gga>Aga	p.G110R	DLD_ENST00000440410.1_Missense_Mutation_p.G87R|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Missense_Mutation_p.G11R|DLD_ENST00000437604.2_Missense_Mutation_p.G110R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	110					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TGCATCTAGAGGAATTGAAAG	0.313																																						ENST00000205402.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(328-330)Gga>Aga		dihydrolipoamide dehydrogenase	NADH(DB00157)						85.0	85.0	85.0					7																	107543983		2203	4299	6502	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107543983G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.328G>A	7.37:g.107543983G>A	ENSP00000205402:p.Gly110Arg					DLD_ENST00000440410.1_Missense_Mutation_p.G87R|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Missense_Mutation_p.G11R|DLD_ENST00000437604.2_Missense_Mutation_p.G110R	p.G110R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN			5	609	+			110					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.328G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290750	0.95546	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.78481	-0.4;-0.4;-1.18;0.87;0.65	5.9	5.9	0.94986	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94066	0.7331	10	0.87932	D	0	-11.38	20.2789	0.98501	0.0:0.0:1.0:0.0	.	87;110;110	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	R	110;110;11;87;110;60	ENSP00000205402:G110R;ENSP00000390667:G110R;ENSP00000442399:G11R;ENSP00000417016:G87R;ENSP00000387542:G110R	ENSP00000205402:G110R	G	+	1	0	DLD	107331219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.062000	0.93920	2.788000	0.95919	0.650000	0.86243	GGA		0.313	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		3	18	0	0	0	1	0	3	18				
PCYOX1L	78991	broad.mit.edu	37	5	148743768	148743768	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:148743768C>T	ENST00000274569.4	+	3	527	c.465C>T	c.(463-465)ttC>ttT	p.F155F	PCYOX1L_ENST00000514349.1_Silent_p.F65F	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	155					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGAAGTTCATGAGGTAGG	0.562																																					Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(193-195)ttC>ttT		prenylcysteine oxidase 1 like							113.0	112.0	113.0					5																	148743768		2203	4300	6503	SO:0001819	synonymous_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743768C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.465C>T	5.37:g.148743768C>T						PCYOX1L_ENST00000274569.4_Silent_p.F155F	p.F65F			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	774	+			155					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Silent	SNP	ENST00000274569.4	37	c.195C>T	CCDS4296.1																																																																																				0.562	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		7	24	0	0	0	1	0	7	24				
AASS	10157	broad.mit.edu	37	7	121738887	121738887	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:121738887C>T	ENST00000393376.1	-	13	1535	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.R480R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	480	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AAACCTTTCTCCTGGTGCCCA	0.318																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1438-1440)agG>agA		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						59.0	64.0	62.0					7																	121738887		2203	4299	6502	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738887C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1440G>A	7.37:g.121738887C>T						AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.R480R	p.R480R			Q9UDR5	AASS_HUMAN			13	1535	-			480			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1440G>A	CCDS5783.1																																																																																				0.318	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	23	0	0	0	1	0	4	23				
LCA5	167691	broad.mit.edu	37	6	80197214	80197214	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:80197214C>G	ENST00000392959.1	-	9	2212	c.1601G>C	c.(1600-1602)gGa>gCa	p.G534A	LCA5_ENST00000369846.4_Missense_Mutation_p.G534A	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	534					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTGACCTTCTCCTTTTGGAGT	0.438																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1600-1602)gGa>gCa		Leber congenital amaurosis 5							105.0	104.0	105.0					6																	80197214		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197214C>G		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1601G>C	6.37:g.80197214C>G	ENSP00000376686:p.Gly534Ala					LCA5_ENST00000369846.4_Missense_Mutation_p.G534A	p.G534A	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2212	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	534					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1601G>C	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	3.225	-0.158780	0.06544	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30981	1.51;1.51	5.56	0.973	0.19710	.	0.781774	0.11920	N	0.516836	T	0.07324	0.0185	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41520	-0.9504	10	0.10111	T	0.7	-7.1528	5.5978	0.17337	0.0:0.2839:0.4175:0.2986	.	534	Q86VQ0	LCA5_HUMAN	A	534	ENSP00000358861:G534A;ENSP00000376686:G534A	ENSP00000358861:G534A	G	-	2	0	LCA5	80253933	0.000000	0.05858	0.413000	0.26509	0.041000	0.13682	-0.319000	0.08039	0.246000	0.21394	0.591000	0.81541	GGA		0.438	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		19	84	0	0	0	1	0	19	84				
PRKD1	5587	broad.mit.edu	37	14	30100021	30100021	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:30100021C>G	ENST00000331968.5	-	10	1828	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D	PRKD1_ENST00000415220.2_Missense_Mutation_p.E541D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1597-1599)gaG>gaC		protein kinase D1							194.0	150.0	165.0					14																	30100021		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100021C>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1599G>C	14.37:g.30100021C>G	ENSP00000333568:p.Glu533Asp					PRKD1_ENST00000415220.2_Missense_Mutation_p.E541D	p.E533D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1828	-	Hepatocellular(127;0.0604)		533			PH.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1599G>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417678	0.83449	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.75367	-0.93;-0.93;-0.93	5.12	3.26	0.37387	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.136721	0.48767	D	0.000163	D	0.84288	0.5439	M	0.84326	2.69	0.58432	D	0.999993	D	0.58970	0.984	D	0.66497	0.944	D	0.85336	0.1093	10	0.59425	D	0.04	-15.9122	10.6256	0.45506	0.0:0.7822:0.0:0.2178	.	533	Q15139	KPCD1_HUMAN	D	533;541;114	ENSP00000333568:E533D;ENSP00000390535:E541D;ENSP00000447333:E114D	ENSP00000333568:E533D	E	-	3	2	PRKD1	29169772	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.273000	0.33121	1.279000	0.44446	0.655000	0.94253	GAG		0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	74	0	0	0	1	0	12	74				
TRPC4	7223	broad.mit.edu	37	13	38225478	38225478	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:38225478T>A	ENST00000379705.3	-	8	2860	c.2003A>T	c.(2002-2004)tAc>tTc	p.Y668F	TRPC4_ENST00000355779.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y495F|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y495F|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y668F|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y668F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	668	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGATCAGGTACCAGAGAGA	0.423																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2002-2004)tAc>tTc		transient receptor potential cation channel, subfamily C, member 4							134.0	130.0	131.0					13																	38225478		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225478T>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2003A>T	13.37:g.38225478T>A	ENSP00000369027:p.Tyr668Phe					TRPC4_ENST00000355779.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y495F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y495F|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y668F|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y668F|TRPC4_ENST00000426868.2_3'UTR	p.Y668F			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2860	-			668			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2003A>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934338	0.92458	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93032	0.7782	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.986;0.98;0.996;0.986;0.976	D	0.93845	0.7140	10	0.66056	D	0.02	-21.531	16.1484	0.81586	0.0:0.0:0.0:1.0	.	668;668;495;668;668	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	F	668;668;495;495;668;668;668	ENSP00000369027:Y668F;ENSP00000369003:Y668F;ENSP00000342580:Y495F;ENSP00000369001:Y495F;ENSP00000348025:Y668F;ENSP00000351264:Y668F;ENSP00000414316:Y668F	ENSP00000342580:Y495F	Y	-	2	0	TRPC4	37123478	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.226000	0.72624	0.459000	0.35465	TAC		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		15	30	0	0	0	1	0	15	30				
FSCB	84075	broad.mit.edu	37	14	44974261	44974261	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:44974261C>A	ENST00000340446.4	-	1	2221	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	644	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.662																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1930-1932)Gct>Tct		fibrous sheath CABYR binding protein							1.0	1.0	1.0					14																	44974261		305	870	1175	SO:0001583	missense	84075					cilium		g.chr14:44974261C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1930G>T	14.37:g.44974261C>A	ENSP00000344579:p.Ala644Ser						p.A644S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2221	-			644			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1930G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467217	0.26335	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14391	2.51	4.1	-0.191	0.13252	.	.	.	.	.	T	0.09642	0.0237	L	0.61218	1.895	0.09310	N	1	P	0.38250	0.624	B	0.27796	0.083	T	0.28681	-1.0036	9	0.21540	T	0.41	0.6857	3.9892	0.09529	0.1453:0.4412:0.3218:0.0917	.	644	Q5H9T9	FSCB_HUMAN	S	644;537	ENSP00000344579:A644S	ENSP00000344579:A644S	A	-	1	0	FSCB	44044011	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.365000	0.07573	-0.138000	0.11434	-0.687000	0.03738	GCT		0.662	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		5	14	1	0	2.0095e-06	1	2.19053e-06	5	14				
ARID1A	8289	broad.mit.edu	37	1	27106260	27106260	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27106260C>T	ENST00000324856.7	+	20	6242	c.5871C>T	c.(5869-5871)gaC>gaT	p.D1957D	ARID1A_ENST00000540690.1_Silent_p.D285D|ARID1A_ENST00000374152.2_Silent_p.D1574D|ARID1A_ENST00000457599.2_Silent_p.D1740D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1957					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTAGAGGACGAACCCCACA	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5869-5871)gaC>gaT		AT rich interactive domain 1A (SWI-like)							175.0	147.0	156.0					1																	27106260		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106260C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5871C>T	1.37:g.27106260C>T						ARID1A_ENST00000374152.2_Silent_p.D1574D|ARID1A_ENST00000457599.2_Silent_p.D1740D|ARID1A_ENST00000540690.1_Silent_p.D285D	p.D1957D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6242	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1957					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.5871C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.291	0.421711	0.11928	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.02	-8.74	0.00838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.934	17.9528	0.89058	0.0:0.2054:0.0:0.7946	.	.	.	.	X	854	.	.	R	+	1	2	ARID1A	26978847	0.027000	0.19231	0.795000	0.32087	0.989000	0.77384	-0.952000	0.03881	-1.711000	0.01395	-0.339000	0.08088	CGA		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		17	90	0	0	0	1	0	17	90				
NPR1	4881	broad.mit.edu	37	1	153651952	153651952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:153651952delC	ENST00000368680.3	+	1	840	c.368delC	c.(367-369)gccfs	p.A123fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	123					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TACGCCGCCGCCCCAGTGGGG	0.741																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(367-369)gcfs		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						3.0	3.0	3.0					1																	153651952		1726	3387	5113	SO:0001589	frameshift_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153651952delC	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.368delC	1.37:g.153651952delC	ENSP00000357669:p.Ala123fs						p.A123fs	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	840	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		123					B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Del	DEL	ENST00000368680.3	37	c.368delC	CCDS1051.1																																																																																				0.741	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		2	4						2	4	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86246536	86246537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:86246536_86246537insA	ENST00000314673.3	-	17	1757_1758	c.1581_1582insT	c.(1579-1584)tatggtfs	p.G528fs	SNX14_ENST00000369627.2_Frame_Shift_Ins_p.G519fs|SNX14_ENST00000505648.1_Frame_Shift_Ins_p.G476fs|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Ins_p.G475fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	528					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCAGCTACACCATAATTAGGCA	0.317																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(1579-1584)tagtgtfs		sorting nexin 14																																				SO:0001589	frameshift_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86246536_86246537insA	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1582dupT	6.37:g.86246537_86246537dupA	ENSP00000313121:p.Gly528fs					SNX14_ENST00000369627.2_Frame_Shift_Ins_p.*C518fs|SNX14_ENST00000346348.3_Frame_Shift_Ins_p.*C474fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Frame_Shift_Ins_p.*C475fs|SNX14_ENST00000513865.1_Intron	p.*C527fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	17	1757_1758	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	527					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Ins	INS	ENST00000314673.3	37	c.1581_1582insT	CCDS5004.1																																																																																				0.317	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		10	29						10	29	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122928524	122928535	+	In_Frame_Del	DEL	CCTCCTGGCATG	CCTCCTGGCATG	-			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:122928524_122928535delCCTCCTGGCATG	ENST00000532636.1	-	9	1967_1978	c.1848_1859delCATGCCAGGAGG	c.(1846-1860)ggcatgccaggagga>gga	p.616_620GMPGG>G	HSPA8_ENST00000534319.1_In_Frame_Del_p.380_384GMPGG>G|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000533540.1_In_Frame_Del_p.470_474GMPGG>G|HSPA8_ENST00000453788.2_Splice_Site_p.463_467GMPGG>G|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_In_Frame_Del_p.616_620GMPGG>G|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_In_Frame_Del_p.616_620GMPGG>G|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_In_Frame_Del_p.597_601GMPGG>G			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	616					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCAGGCATTCCTCCTGGCATGCCTCCTGCAC	0.519																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1846-1860)gga>gg		heat shock 70kDa protein 8																																				SO:0001651	inframe_deletion	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928524_122928535delCCTCCTGGCATG	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1848_1859delCATGCCAGGAGG	11.37:g.122928524_122928535delCCTCCTGGCATG	ENSP00000437125:p.Gly620_Gly623del					HSPA8_ENST00000533540.1_In_Frame_Del_p.GMPGG470del|HSPA8_ENST00000534319.1_In_Frame_Del_p.GMPGG380del|HSPA8_ENST00000526110.1_In_Frame_Del_p.GMPGG597del|HSPA8_ENST00000532636.1_In_Frame_Del_p.GMPGG616del|HSPA8_ENST00000453788.2_Splice_Site_p.GMPGG463_splice|HSPA8_ENST00000227378.3_In_Frame_Del_p.GMPGG616del	p.GMPGG616del	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	2124_2135	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	616					Q9H3R6	In_Frame_Del	DEL	ENST00000532636.1	37	c.1848_1859delCATGCCAGGAGG	CCDS8440.1																																																																																				0.519	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			15	85						15	85	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												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)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
SYNGR1	9145	broad.mit.edu	37	22	39746049	39746049	+	Frame_Shift_Del	DEL	G	G	-	rs548672289		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:39746049delG	ENST00000328933.5	+	1	49	c.34delG	c.(34-36)gggfs	p.G13fs	SYNGR1_ENST00000318801.4_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000216155.7_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000406293.3_Frame_Shift_Del_p.G13fs	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	13					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGGCAAAGCCGGGGGCGCCTT	0.766																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(34-36)ggfs		synaptogyrin 1							10.0	12.0	11.0					22																	39746049		2151	4234	6385	SO:0001589	frameshift_variant	9145							g.chr22:39746049delG	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.34delG	22.37:g.39746049delG	ENSP00000332287:p.Gly13fs					SYNGR1_ENST00000318801.4_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000406293.3_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000216155.7_Frame_Shift_Del_p.G13fs	p.G13fs	NM_004711.4	NP_004702.2					1	49	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Frame_Shift_Del	DEL	ENST00000328933.5	37	c.34delG	CCDS13989.1																																																																																				0.766	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		2	4						2	4	---	---	---	---
