#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:12374350A>C	ENST00000358136.3	+	30	7244	c.7114A>C	c.(7114-7116)Acc>Ccc	p.T2372P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCAGCACCACCCAAGGGTC	0.502																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7114-7116)Acc>Ccc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							136.0	112.0	120.0					1																	12374350		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12374350A>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7114A>C	1.37:g.12374350A>C	ENSP00000350854:p.Thr2372Pro					VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	p.T2372P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	30	7244	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2372						Missense_Mutation	SNP	ENST00000358136.3	37	c.7114A>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	3.867	-0.028642	0.07589	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.42131	0.98;0.98	5.32	-5.17	0.02849	.	0.748320	0.11458	N	0.562031	T	0.12646	0.0307	N	0.03608	-0.345	0.25270	N	0.989529	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.10450	0.0;0.005;0.002	T	0.21484	-1.0244	9	.	.	.	.	1.6762	0.02822	0.3239:0.1141:0.3401:0.2218	.	279;2372;2372	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	P	2372	ENSP00000348666:T2372P;ENSP00000350854:T2372P	.	T	+	1	0	VPS13D	12296937	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.640000	0.05440	-1.065000	0.03168	-0.375000	0.07067	ACC		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		3	12	3	12	---	---	---	---
PADI4	23569	broad.mit.edu	37	1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17668541G>C	ENST00000375448.4	+	7	782	c.756G>C	c.(754-756)gaG>gaC	p.E252D	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	252					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTACGTGGAGGCCCTCGCTT	0.602																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(754-756)gaG>gaC		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						95.0	87.0	90.0					1																	17668541		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668541G>C	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.756G>C	1.37:g.17668541G>C	ENSP00000364597:p.Glu252Asp					AC004824.2_ENST00000602074.1_Intron	p.E252D	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	7	782	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	252					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.756G>C	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	16.29	3.080329	0.55753	.	.	ENSG00000159339	ENST00000375448	T	0.33216	1.42	4.63	2.67	0.31697	Protein-arginine deiminase (PAD), central domain (2);	0.056345	0.64402	D	0.000001	T	0.53769	0.1817	M	0.88105	2.93	0.32296	N	0.565627	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	T	0.61476	-0.7055	10	0.34782	T	0.22	-45.7269	7.1549	0.25632	0.2297:0.0:0.7703:0.0	.	252;252	A8K392;Q9UM07	.;PADI4_HUMAN	D	252	ENSP00000364597:E252D	ENSP00000364597:E252D	E	+	3	2	PADI4	17541128	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	1.162000	0.31786	1.049000	0.40321	0.555000	0.69702	GAG		0.602	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		25	39	25	39	---	---	---	---
MRTO4	51154	broad.mit.edu	37	1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:19584333C>G	ENST00000330263.4	+	6	645	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	116					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGTGGTTCACGAAATACA	0.592																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(346-348)ttC>ttG		mRNA turnover 4 homolog (S. cerevisiae)							73.0	73.0	73.0					1																	19584333		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584333C>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.348C>G	1.37:g.19584333C>G	ENSP00000364320:p.Phe116Leu						p.F116L	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	645	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	116					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.348C>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123441	0.77436	.	.	ENSG00000053372	ENST00000330263	T	0.37058	1.22	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.77820	2.39	0.80722	D	1	P	0.49447	0.924	P	0.50754	0.649	T	0.44251	-0.9340	10	0.20519	T	0.43	-24.7315	10.2079	0.43124	0.0:0.848:0.0:0.152	.	116	Q9UKD2	MRT4_HUMAN	L	116	ENSP00000364320:F116L	ENSP00000364320:F116L	F	+	3	2	MRTO4	19456920	0.984000	0.35163	1.000000	0.80357	0.742000	0.42306	1.143000	0.31553	1.509000	0.48786	0.655000	0.94253	TTC		0.592	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		25	55	25	55	---	---	---	---
WASF2	10163	broad.mit.edu	37	1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G	rs201619033		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:27744831C>G	ENST00000430629.2	-	4	573	c.358G>C	c.(358-360)Gtc>Ctc	p.V120L	WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	120					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTTCTAAGACAGGCACTGGG	0.458																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(358-360)Gtc>Ctc		WAS protein family, member 2							121.0	122.0	122.0					1																	27744831		2203	4297	6500	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27744831C>G	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.358G>C	1.37:g.27744831C>G	ENSP00000396211:p.Val120Leu					WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	4	573	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	120					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.358G>C	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233846	0.39498	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67698	-0.28;1.26	5.37	4.46	0.54185	.	0.184155	0.47852	D	0.000201	T	0.46444	0.1393	N	0.16743	0.435	0.50813	D	0.99989	B;B	0.21452	0.0;0.056	B;B	0.17433	0.003;0.018	T	0.36939	-0.9727	10	0.07030	T	0.85	-3.5769	13.5076	0.61493	0.0:0.9244:0.0:0.0756	.	120;120	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	L	120	ENSP00000396211:V120L;ENSP00000439883:V120L	ENSP00000396211:V120L	V	-	1	0	WASF2	27617418	0.984000	0.35163	0.993000	0.49108	0.998000	0.95712	1.763000	0.38461	1.272000	0.44329	0.655000	0.94253	GTC		0.458	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		16	27	16	27	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39877441G>T	ENST00000530275.1	+	1	1291	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	366										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGGATGCAGAAAATTTACT	0.393																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1096-1098)Gaa>Taa		KIAA0754							59.0	58.0	58.0					1																	39877441		1824	4083	5907	SO:0001587	stop_gained	643314							g.chr1:39877441G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1096G>T	1.37:g.39877441G>T	ENSP00000431179:p.Glu366*					MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron	p.E366*	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1291	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	366					E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	ENST00000530275.1	37	c.1096G>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.671803	0.88348	.	.	ENSG00000255103	ENST00000530275	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8066	0.85707	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000431179:E366X	E	+	1	0	RP4-562N20.1	39650028	0.998000	0.40836	1.000000	0.80357	0.084000	0.17831	3.649000	0.54417	2.398000	0.81561	0.655000	0.94253	GAA		0.393	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		10	17	10	17	---	---	---	---
DMBX1	127343	broad.mit.edu	37	1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:46976632A>C	ENST00000360032.3	+	3	373	c.359A>C	c.(358-360)aAg>aCg	p.K120T	DMBX1_ENST00000371956.4_Missense_Mutation_p.K125T	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGCCGGGCCAAGTTCCGGAAG	0.627																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(373-375)aAg>aCg		diencephalon/mesencephalon homeobox 1							25.0	31.0	29.0					1																	46976632		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976632A>C	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.359A>C	1.37:g.46976632A>C	ENSP00000353132:p.Lys120Thr					DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T	p.K125T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	389	+	Acute lymphoblastic leukemia(166;0.155)		125			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.374A>C	CCDS536.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693719	0.88735	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97976	-4.64;-4.64	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.99984	5.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97277	0.9915	10	0.87932	D	0	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	125;120	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	T	125;120	ENSP00000361024:K125T;ENSP00000353132:K120T	ENSP00000353132:K120T	K	+	2	0	DMBX1	46749219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.894000	0.54839	0.482000	0.46254	AAG		0.627	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			8	25	8	25	---	---	---	---
FOXD2	2306	broad.mit.edu	37	1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:47904210C>G	ENST00000334793.5	+	1	2522	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	135					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GTACATCGCGCTCATCACCAT	0.716																																						ENST00000334793.5																			0				lung(4)	4						c.(403-405)Ctc>Gtc		forkhead box D2							38.0	44.0	42.0					1																	47904210		2203	4300	6503	SO:0001583	missense	2306				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47904210C>G	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.403C>G	1.37:g.47904210C>G	ENSP00000335493:p.Leu135Val						p.L135V	NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	2522	+			135					Q5SVZ3	Missense_Mutation	SNP	ENST00000334793.5	37	c.403C>G	CCDS30708.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794633	0.70452	.	.	ENSG00000186564	ENST00000334793	D	0.98060	-4.69	4.2	4.2	0.49525	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.99254	0.9740	H	0.98333	4.205	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.98591	1.0654	10	0.87932	D	0	.	15.3129	0.74048	0.0:1.0:0.0:0.0	.	135	O60548	FOXD2_HUMAN	V	135	ENSP00000335493:L135V	ENSP00000335493:L135V	L	+	1	0	FOXD2	47676797	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.353000	0.66034	1.866000	0.54105	0.436000	0.28706	CTC		0.716	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474		12	11	12	11	---	---	---	---
MYSM1	114803	broad.mit.edu	37	1	59147849	59147849	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:59147849A>T	ENST00000472487.1	-	8	906	c.867T>A	c.(865-867)ctT>ctA	p.L289L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	289					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTGAGCTTGAAAGTGTTTCAT	0.348																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(865-867)ctT>ctA		Myb-like, SWIRM and MPN domains 1							165.0	156.0	159.0					1																	59147849		1831	4081	5912	SO:0001819	synonymous_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147849A>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.867T>A	1.37:g.59147849A>T						MYSM1_ENST00000493821.1_5'UTR	p.L289L	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	906	-	all_cancers(7;9.36e-06)		289					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	c.867T>A	CCDS41343.1																																																																																				0.348	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		30	21	30	21	---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101487277	101487277	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:101487277T>C	ENST00000370109.3	-	3	292	c.180A>G	c.(178-180)gaA>gaG	p.E60E	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000488176.1_Silent_p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTTGTTCCACTTCTTCTCTAT	0.368																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(178-180)gaA>gaG		diphthamide biosynthesis 5							162.0	151.0	154.0					1																	101487277		1862	4113	5975	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101487277T>C	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.180A>G	1.37:g.101487277T>C						DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000488176.1_Silent_p.E60E	p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	3	292	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	60					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.180A>G	CCDS41358.1																																																																																				0.368	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		11	16	11	16	---	---	---	---
PSRC1	84722	broad.mit.edu	37	1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:109824258G>A	ENST00000438534.2	-	4	640	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	168	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		ATGTTGGAGGGCCTCTTTCCA	0.567																																						ENST00000438534.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7						c.(502-504)Ccc>Tcc		proline/serine-rich coiled-coil 1							75.0	76.0	76.0					1																	109824258		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824258G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.502C>T	1.37:g.109824258G>A	ENSP00000413591:p.Pro168Ser					PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S	p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	640	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	168			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.502C>T		.	.	.	.	.	.	.	.	.	.	G	17.79	3.475279	0.63737	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.63	3.59	0.41128	.	0.436137	0.21467	N	0.074076	T	0.25005	0.0607	L	0.47716	1.5	0.30586	N	0.762027	B;P;B	0.36909	0.386;0.573;0.386	B;B;B	0.39217	0.178;0.294;0.178	T	0.11060	-1.0603	10	0.62326	D	0.03	-14.9046	8.2902	0.31952	0.0:0.1718:0.6502:0.178	.	168;168;168	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	S	168	ENSP00000386323:P168S;ENSP00000358923:P168S;ENSP00000413591:P168S;ENSP00000358925:P168S;ENSP00000358919:P168S	ENSP00000358919:P168S	P	-	1	0	PSRC1	109625781	0.997000	0.39634	0.798000	0.32154	0.905000	0.53344	1.899000	0.39818	1.324000	0.45282	0.561000	0.74099	CCC		0.567	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		19	35	19	35	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156877420	156877420	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:156877420C>T	ENST00000338302.3	+	8	888	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PEAR1_ENST00000292357.7_Silent_p.S221S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	221					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCCTGTTCCCAGGGCACTT	0.577																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(661-663)tcC>tcT		platelet endothelial aggregation receptor 1							174.0	166.0	169.0					1																	156877420		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156877420C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.663C>T	1.37:g.156877420C>T						PEAR1_ENST00000292357.7_Silent_p.S221S	p.S221S			Q5VY43	PEAR1_HUMAN			8	888	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		221					Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.663C>T	CCDS30892.1																																																																																				0.577	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		118	122	118	122	---	---	---	---
F5	2153	broad.mit.edu	37	1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483633G>A	ENST00000367797.3	-	25	6794	c.6593C>T	c.(6592-6594)tCc>tTc	p.S2198F	F5_ENST00000367796.3_Missense_Mutation_p.S2203F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GATAAACCTGGAAATGATTGG	0.348																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(6607-6609)tCc>tTc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						78.0	82.0	81.0					1																	169483633		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169483633G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6593C>T	1.37:g.169483633G>A	ENSP00000356771:p.Ser2198Phe					F5_ENST00000367797.3_Missense_Mutation_p.S2198F	p.S2203F			P12259	FA5_HUMAN			25	6809	-	all_hematologic(923;0.208)		2198			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6608C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471679	0.84533	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.83075	-1.68;-1.68	5.09	5.09	0.68999	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.059006	0.64402	D	0.000001	D	0.90796	0.7110	M	0.82323	2.585	0.48830	D	0.999715	D	0.89917	1.0	D	0.87578	0.998	D	0.92137	0.5717	9	0.87932	D	0	-8.4071	18.0692	0.89400	0.0:0.0:1.0:0.0	.	2198	P12259	FA5_HUMAN	F	2198;2203	ENSP00000356771:S2198F;ENSP00000356770:S2203F	ENSP00000356770:S2203F	S	-	2	0	F5	167750257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.131000	0.89601	2.356000	0.79943	0.591000	0.81541	TCC		0.348	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		10	22	10	22	---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:236306076T>G	ENST00000366592.3	+	1	245	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	52						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTACACCGTGTTCTACGCGCT	0.652																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(154-156)Ttc>Gtc		G protein-coupled receptor 137B							109.0	82.0	91.0					1																	236306076		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236306076T>G	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.154T>G	1.37:g.236306076T>G	ENSP00000355551:p.Phe52Val					GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	245	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	52					Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.154T>G	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416671	0.83449	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;T	0.13196	2.61;2.61	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	P	0.60682	0.878	T	0.03773	-1.1005	10	0.52906	T	0.07	-24.9892	14.5509	0.68065	0.0:0.0:0.0:1.0	.	52	O60478	G137B_HUMAN	V	52;52;51	ENSP00000355551:F52V;ENSP00000355550:F52V	ENSP00000355550:F52V	F	+	1	0	GPR137B	234372699	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.824000	0.62701	1.837000	0.53436	0.449000	0.29647	TTC		0.652	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		9	30	9	30	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237756847	237756847	+	Silent	SNP	T	T	C	rs368930040	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:237756847T>C	ENST00000366574.2	+	33	4664	c.4347T>C	c.(4345-4347)gaT>gaC	p.D1449D	RYR2_ENST00000542537.1_Silent_p.D1433D|RYR2_ENST00000360064.6_Silent_p.D1447D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1449	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACATCAGATTTCCATCAGT	0.418													T|||	4	0.000798722	0.0023	0.0014	5008	,	,		19779	0.0		0.0	False		,,,				2504	0.0					ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4345-4347)gaT>gaC		ryanodine receptor 2 (cardiac)		T		7,3821		0,7,1907	106.0	98.0	101.0		4347	-1.7	0.9	1		101	0,8244		0,0,4122	no	coding-synonymous	RYR2	NM_001035.2		0,7,6029	CC,CT,TT		0.0,0.1829,0.058		1449/4968	237756847	7,12065	1914	4122	6036	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756847T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4347T>C	1.37:g.237756847T>C						RYR2_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D	p.D1449D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4664	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1449			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4347T>C	CCDS55691.1																																																																																				0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	61	4	61	---	---	---	---
TTC7A	57217	broad.mit.edu	37	2	47256512	47256512	+	Silent	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:47256512T>A	ENST00000319190.5	+	15	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	597					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGAGCACCCTGAGAACTTCA	0.622																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1789-1791)ccT>ccA		tetratricopeptide repeat domain 7A							99.0	92.0	94.0					2																	47256512		2203	4300	6503	SO:0001819	synonymous_variant	57217						binding	g.chr2:47256512T>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1791T>A	2.37:g.47256512T>A						TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P	p.P597P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		15	2159	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	597					Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	c.1791T>A	CCDS33193.1																																																																																				0.622	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		24	47	24	47	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:75081432C>A	ENST00000290573.2	+	2	676	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	HK2_ENST00000409174.1_5'UTR	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	26	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGACCAGTATCTCTACCACAT	0.493																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(76-78)Ctc>Atc		hexokinase 2							247.0	258.0	254.0					2																	75081432		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081432C>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.76C>A	2.37:g.75081432C>A	ENSP00000290573:p.Leu26Ile					HK2_ENST00000409174.1_5'UTR	p.L26I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			2	676	+			26			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.76C>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637908	0.87760	.	.	ENSG00000159399	ENST00000290573;ENST00000535740	T	0.58506	0.33	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.76639	-0.2885	10	0.52906	T	0.07	-24.5184	16.123	0.81375	0.0:1.0:0.0:0.0	.	26	P52789	HXK2_HUMAN	I	26	ENSP00000290573:L26I	ENSP00000290573:L26I	L	+	1	0	HK2	74934940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CTC		0.493	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		65	119	65	119	---	---	---	---
REG1P	5969	broad.mit.edu	37	2	79365096	79365097	+	RNA	DNP	GG	GG	AT			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:79365096_79365097GG>AT	ENST00000444841.1	-	0	161_162									regenerating islet-derived 1 pseudogene																		ATCTCACCTTGGCTCAGAGACA	0.495																																						ENST00000444841.1																			0																																																			5969							g.chr2:79365096G>A|g.chr2:79365097G>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978	Exception_encountered	2.37:g.79365096_79365097delinsAT														0	162|161	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.495	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		4	10	4	10	---	---	---	---
RNF149	284996	broad.mit.edu	37	2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:101893716C>A	ENST00000295317.3	-	7	1294	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATGGGTCCTCCATGCCGAGA	0.458																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1186-1188)gGa>gTa		ring finger protein 149							48.0	48.0	48.0					2																	101893716		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101893716C>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1187G>T	2.37:g.101893716C>A	ENSP00000295317:p.Gly396Val						p.G396V	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			7	1294	-			396					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1187G>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182995	0.21870	.	.	ENSG00000163162	ENST00000295317	T	0.09817	2.94	4.89	1.78	0.24846	.	0.583811	0.16579	N	0.208283	T	0.08179	0.0204	L	0.34521	1.04	0.26779	N	0.969646	P	0.44627	0.839	B	0.41236	0.351	T	0.19192	-1.0313	10	0.87932	D	0	.	5.38	0.16186	0.0:0.624:0.1669:0.2091	.	396	Q8NC42	RN149_HUMAN	V	396	ENSP00000295317:G396V	ENSP00000295317:G396V	G	-	2	0	RNF149	101260148	0.979000	0.34478	0.006000	0.13384	0.005000	0.04900	0.696000	0.25541	0.471000	0.27319	0.563000	0.77884	GGA		0.458	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		6	5	6	5	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:149806898G>A	ENST00000435030.1	+	10	1258	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K			O60282	KIF5C_HUMAN	kinesin family member 5C	297	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGGAACTGCAGAACCACCATC	0.468																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(889-891)aGa>aAa		kinesin family member 5C							123.0	123.0	123.0					2																	149806898		1962	4167	6129	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806898G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.890G>A	2.37:g.149806898G>A	ENSP00000393379:p.Arg297Lys					KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR	p.R297K			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	10	1258	+			297			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.890G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.042442	0.97231	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.64	5.64	0.86602	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	.	.	.	0.58432	D	0.999999	B	0.30889	0.299	P	0.48400	0.576	T	0.71915	-0.4448	9	0.28530	T	0.3	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	297	O60282	KIF5C_HUMAN	K	297;202;200;14;65	ENSP00000393379:R297K;ENSP00000410115:R202K;ENSP00000393270:R14K;ENSP00000380560:R65K	ENSP00000334176:R200K	R	+	2	0	KIF5C	149515144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	AGA		0.468	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		5	21	5	21	---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152830186	152830186	+	Intron	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:152830186C>A	ENST00000539935.1	-	3	215				CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000360283.6_Missense_Mutation_p.E14D|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000475848.1_5'UTR	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TACTTACAGCCTCCGAGTCTT	0.468																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(40-42)gaG>gaT		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						74.0	72.0	73.0					2																	152830186		1866	4104	5970	SO:0001627	intron_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152830186C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90302G>T	2.37:g.152830186C>A						CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000475848.1_5'UTR	p.E14D			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	1	299	-			0					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.42G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466643	0.43839	.	.	ENSG00000182389	ENST00000360283;ENST00000534999	T;T	0.72505	-0.66;-0.66	5.78	5.78	0.91487	.	.	.	.	.	T	0.65322	0.2680	L	0.44542	1.39	0.33897	D	0.638076	B;P	0.41784	0.0;0.762	B;B	0.38264	0.001;0.269	T	0.71777	-0.4490	9	0.29301	T	0.29	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	14;14	E7DBM8;O00305-2	.;.	D	14	ENSP00000353425:E14D;ENSP00000443893:E14D	ENSP00000353425:E14D	E	-	3	2	CACNB4	152538432	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.879000	0.56138	2.740000	0.93945	0.313000	0.20887	GAG		0.468	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		5	11	5	11	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:220333704A>G	ENST00000312358.7	+	12	3557	c.3425A>G	c.(3424-3426)cAt>cGt	p.H1142R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1142	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAACACCCATGGCCAGGCC	0.652																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3424-3426)cAt>cGt		SPEG complex locus							44.0	54.0	51.0					2																	220333704		2066	4194	6260	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220333704A>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3425A>G	2.37:g.220333704A>G	ENSP00000311684:p.His1142Arg					SPEG_ENST00000485813.1_3'UTR	p.H1142R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	12	3557	+		Renal(207;0.0183)	1142			Ig-like 5.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3425A>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.186853	0.38609	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66638	-0.22	4.77	4.77	0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000562	T	0.75019	0.3793	L	0.42686	1.345	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.76534	-0.2924	10	0.52906	T	0.07	.	14.4658	0.67482	1.0:0.0:0.0:0.0	.	1142	Q15772	SPEG_HUMAN	R	1142	ENSP00000311684:H1142R	ENSP00000265327:H1142R	H	+	2	0	SPEG	220041948	1.000000	0.71417	0.584000	0.28653	0.257000	0.26127	7.220000	0.78008	2.015000	0.59207	0.533000	0.62120	CAT		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	35	7	35	---	---	---	---
AP1S3	130340	broad.mit.edu	37	2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:224642531T>A	ENST00000446015.2	-	2	92	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_ENST00000443700.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGTGATGTACCATTTCTG	0.423																																						ENST00000443700.1																			0				NS(1)|breast(1)|lung(2)	4						c.(58-60)tAc>tTc		adaptor-related protein complex 1, sigma 3 subunit							83.0	77.0	79.0					2																	224642531		1868	4096	5964	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224642531T>A	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.59A>T	2.37:g.224642531T>A	ENSP00000388738:p.Tyr20Phe					AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F	p.Y20F			Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	210	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	20					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.59A>T		.	.	.	.	.	.	.	.	.	.	T	8.584	0.882981	0.17467	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000396653;ENST00000446015;ENST00000409375;ENST00000423110	.	.	.	5.92	5.92	0.95590	Longin-like (1);AP complex, mu/sigma subunit (1);	0.061993	0.64402	D	0.000002	T	0.47266	0.1436	N	0.17564	0.495	0.52501	D	0.999956	B;B	0.23990	0.002;0.095	B;B	0.36608	0.005;0.229	T	0.46470	-0.9189	9	0.38643	T	0.18	.	12.0439	0.53469	0.129:0.0:0.0:0.871	.	20;20	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	F	20	.	ENSP00000333888:Y20F	Y	-	2	0	AP1S3	224350775	0.983000	0.35010	1.000000	0.80357	0.312000	0.27988	1.351000	0.34022	2.277000	0.76020	0.528000	0.53228	TAC		0.423	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			10	11	10	11	---	---	---	---
GPR55	9290	broad.mit.edu	37	2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:231775091A>G	ENST00000392040.1	-	2	779	c.587T>C	c.(586-588)aTc>aCc	p.I196T	GPR55_ENST00000392039.2_Missense_Mutation_p.I196T|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	196					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGCCCATGATGCCCATGGG	0.567																																						ENST00000392040.1																			0				endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(586-588)aTc>aCc		G protein-coupled receptor 55							100.0	104.0	103.0					2																	231775091		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775091A>G	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.587T>C	2.37:g.231775091A>G	ENSP00000375894:p.Ile196Thr					GPR55_ENST00000392039.2_Missense_Mutation_p.I196T	p.I196T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	779	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	196					Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.587T>C	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206386	0.39003	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.42131	0.98;0.98;0.98	5.38	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.329432	0.30869	N	0.008714	T	0.38480	0.1042	L	0.57536	1.79	0.21782	N	0.999543	B	0.14012	0.009	B	0.20384	0.029	T	0.31971	-0.9924	10	0.49607	T	0.09	-27.6869	9.6662	0.39986	0.9149:0.0:0.0851:0.0	.	196	Q9Y2T6	GPR55_HUMAN	T	196	ENSP00000375894:I196T;ENSP00000375893:I196T;ENSP00000412768:I196T	ENSP00000375893:I196T	I	-	2	0	GPR55	231483335	0.277000	0.24220	0.017000	0.16124	0.994000	0.84299	4.529000	0.60588	2.025000	0.59659	0.459000	0.35465	ATC		0.567	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		34	55	34	55	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9855030	9855030	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:9855030G>A	ENST00000547186.1	+	4	531		c.e4+1		RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000427853.3_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site|TTLL3_ENST00000397241.1_Splice_Site	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTCTGATGGTGAGGGCCCT	0.517																																						ENST00000547186.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.e4+1		tubulin tyrosine ligase-like family, member 3							92.0	89.0	90.0					3																	9855030		2014	4182	6196	SO:0001630	splice_region_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9855030G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.315+1G>A	3.37:g.9855030G>A						TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site		NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			4	531	+	Medulloblastoma(99;0.227)							Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Splice_Site	SNP	ENST00000547186.1	37			.	.	.	.	.	.	.	.	.	.	G	17.49	3.401611	0.62288	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738;ENST00000310252;ENST00000452823	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7228	0.62737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC4-TTLL3;TTLL3	9830030	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.168000	0.58216	2.688000	0.91661	0.563000	0.77884	.		0.517	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	Intron	5	7	5	7	---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:49053448G>T	ENST00000341949.4	-	10	1407	c.1401C>A	c.(1399-1401)gaC>gaA	p.D467E	DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000440857.1_Missense_Mutation_p.D300E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	467					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCTGTGCAGTCCAGCACTG	0.567																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(898-900)gaC>gaA		DALR anticodon binding domain containing 3							58.0	65.0	63.0					3																	49053448		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053448G>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1401C>A	3.37:g.49053448G>T	ENSP00000344989:p.Asp467Glu					DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E	p.D300E			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1602	-			467					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.900C>A	CCDS33754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.066|0.066	-1.213047|-1.213047	0.01555|0.01555	.|.	.|.	ENSG00000178149|ENSG00000178149	ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778|ENST00000438585;ENST00000441576	T;T;T;T|T	0.76060|0.53206	-0.99;-0.99;0.94;-0.99|0.63	4.96|4.96	-3.16|-3.16	0.05217|0.05217	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);|.	0.898318|.	0.09835|.	N|.	0.749732|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|B	0.22211|0.28933	0.066;0.015|0.228	B;B|B	0.17722|0.26969	0.019;0.013|0.075	T|T	0.16928|0.16928	-1.0386|-1.0386	10|8	0.02654|.	T|.	1|.	-0.8564|-0.8564	1.5268|1.5268	0.02527|0.02527	0.3269:0.1017:0.3648:0.2066|0.3269:0.1017:0.3648:0.2066	.|.	300;467|459	C9JJG6;Q5D0E6|Q5D0E6-2	.;DALD3_HUMAN|.	E|M	467;300;300;300|114;459	ENSP00000344989:D467E;ENSP00000378846:D300E;ENSP00000403770:D300E;ENSP00000323265:D300E|ENSP00000410623:L459M	ENSP00000323265:D300E|.	D|L	-|-	3|1	2|2	DALRD3|DALRD3	49028452|49028452	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.616000|0.616000	0.37450|0.37450	-0.168000|-0.168000	0.09925|0.09925	-0.509000|-0.509000	0.06532|0.06532	0.556000|0.556000	0.70494|0.70494	GAC|CTG		0.567	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		19	41	19	41	---	---	---	---
ATR	545	broad.mit.edu	37	3	142204017	142204017	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:142204017A>T	ENST00000350721.4	-	36	6307	c.6186T>A	c.(6184-6186)ggT>ggA	p.G2062G	ATR_ENST00000383101.3_Silent_p.G1998G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2062	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGATGAGATCACCTTGCTTTT	0.408								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6184-6186)ggT>ggA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							208.0	195.0	199.0					3																	142204017		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142204017A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6186T>A	3.37:g.142204017A>T						ATR_ENST00000383101.3_Silent_p.G1998G	p.G2062G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			36	6307	-			2062			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6186T>A	CCDS3124.1																																																																																				0.408	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		5	57	5	57	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:154884795G>T	ENST00000460393.1	+	18	1885	c.1765G>T	c.(1765-1767)Ggc>Tgc	p.G589C	MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000492661.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME_ENST00000493237.1_Missense_Mutation_p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	589					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AATCACCCATGGCTTCGATGA	0.443																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1765-1767)Ggc>Tgc		membrane metallo-endopeptidase	Candoxatril(DB00616)						142.0	130.0	134.0					3																	154884795		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884795G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1765G>T	3.37:g.154884795G>T	ENSP00000418525:p.Gly589Cys					MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000492661.1_Missense_Mutation_p.G589C	p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1885	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	589					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1765G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932156	0.92389	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.9	5.9	0.94986	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-16.9681	20.2789	0.98501	0.0:0.0:1.0:0.0	.	589	P08473	NEP_HUMAN	C	589	ENSP00000420389:G589C;ENSP00000418525:G589C;ENSP00000419653:G589C;ENSP00000417079:G589C;ENSP00000353679:G589C	ENSP00000353679:G589C	G	+	1	0	MME	156367489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.731000	0.98807	2.788000	0.95919	0.650000	0.86243	GGC		0.443	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		19	75	19	75	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167525032	167525032	+	Splice_Site	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:167525032G>T	ENST00000295777.5	+	6	1313	c.882G>T	c.(880-882)agG>agT	p.R294S	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	294					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTCTCCAGGTTCACAGTGG	0.348																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(880-882)agG>agT		serpin peptidase inhibitor, clade I (neuroserpin), member 1							60.0	66.0	64.0					3																	167525032		2203	4296	6499	SO:0001630	splice_region_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525032G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.882-1G>T	3.37:g.167525032G>T						SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S	p.R294S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1313	+			294					A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37	c.882G>T	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.314899|3.314899	0.60524|0.60524	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	T;T|.	0.76448|.	-1.02;-1.02|.	5.36|5.36	3.56|3.56	0.40772|0.40772	Serpin domain (3);|.	0.043551|.	0.85682|.	D|.	0.000000|.	T|T	0.81093|0.81093	0.4751|0.4751	H|H	0.94964|0.94964	3.605|3.605	0.51482|0.51482	D|D	0.999922|0.999922	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84117|0.84117	0.0404|0.0404	10|5	0.87932|.	D|.	0|.	.|.	9.4835|9.4835	0.38915|0.38915	0.1646:0.0:0.8354:0.0|0.1646:0.0:0.8354:0.0	.|.	294|.	Q99574|.	NEUS_HUMAN|.	S|F	294;294;42|3	ENSP00000397373:R294S;ENSP00000295777:R294S|.	ENSP00000295777:R294S|.	R|V	+|+	3|1	2|0	SERPINI1|SERPINI1	169007726|169007726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.777000|0.777000	0.43975|0.43975	2.405000|2.405000	0.44548|0.44548	1.263000|1.263000	0.44181|0.44181	0.655000|0.655000	0.94253|0.94253	AGG|GTT		0.348	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		Missense_Mutation	5	35	5	35	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	436020	436020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:436020T>C	ENST00000338977.5	-	2	2248	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	734					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTTTCTTATAT	0.378																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2200-2202)Att>Gtt		zinc finger protein 721							31.0	33.0	32.0					4																	436020		1990	4173	6163	SO:0001583	missense	170960							g.chr4:436020T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2200A>G	4.37:g.436020T>C	ENSP00000340524:p.Ile734Val					ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000506646.1_Intron	p.I734V							2	2248	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2200A>G		.	.	.	.	.	.	.	.	.	.	T	5.407	0.260309	0.10239	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.00986	5.47;5.47	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00906	0.0030	N	0.26042	0.785	0.09310	N	1	B;B;B	0.24618	0.047;0.107;0.087	B;B;B	0.30179	0.112;0.015;0.009	T	0.48007	-0.9072	9	0.30854	T	0.27	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	734;746;746	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	734;746	ENSP00000340524:I734V;ENSP00000428878:I746V	ENSP00000340524:I734V	I	-	1	0	ZNF721	426020	0.000000	0.05858	0.003000	0.11579	0.049000	0.14656	-0.666000	0.05280	0.561000	0.29186	0.155000	0.16302	ATT		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		9	11	9	11	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A	rs561875461	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:10445228G>A	ENST00000326756.3	-	3	3163	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	909					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAGACAGCGGCTAGGTTCA	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		19999	0.0		0.0	False		,,,				2504	0.002					ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2725-2727)Cgc>Tgc		zinc finger protein 518B							94.0	97.0	96.0					4																	10445228		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445228G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2725C>T	4.37:g.10445228G>A	ENSP00000317614:p.Arg909Cys						p.R909C	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3163	-			909					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2725C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108690	0.37242	.	.	ENSG00000178163	ENST00000326756	T	0.01705	4.68	6.01	6.01	0.97437	.	0.991890	0.08199	N	0.982613	T	0.05547	0.0146	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.53146	0.719	T	0.52223	-0.8604	10	0.62326	D	0.03	-3.0462	16.0212	0.80493	0.0:0.0:1.0:0.0	.	909	Q9C0D4	Z518B_HUMAN	C	909	ENSP00000317614:R909C	ENSP00000317614:R909C	R	-	1	0	ZNF518B	10054326	0.368000	0.25031	0.144000	0.22314	0.015000	0.08874	1.521000	0.35910	2.861000	0.98227	0.650000	0.86243	CGC		0.428	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		20	51	20	51	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:87968120C>A	ENST00000307808.6	+	3	832	c.412C>A	c.(412-414)Cca>Aca	p.P138T	AFF1_ENST00000395146.4_Missense_Mutation_p.P145T|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	138					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATGGCGCAGCCAAGAACTGA	0.572																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(412-414)Cca>Aca		AF4/FMR2 family, member 1							89.0	88.0	89.0					4																	87968120		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968120C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.412C>A	4.37:g.87968120C>A	ENSP00000305689:p.Pro138Thr					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P145T	p.P138T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	832	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	138					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.412C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943519	0.34283	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.8	3.98	0.46160	.	0.568968	0.18213	N	0.148106	T	0.72859	0.3513	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.76494	0.992;0.997;0.997;0.999;0.999;0.992	D;D;D;D;D;D	0.74674	0.938;0.939;0.939;0.984;0.984;0.938	T	0.70941	-0.4735	10	0.42905	T	0.14	-10.753	7.0286	0.24954	0.0:0.6485:0.1518:0.1998	.	145;145;79;138;138;145	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	T	145;145;145;145;138	ENSP00000378578:P145T;ENSP00000427593:P145T;ENSP00000424483:P145T;ENSP00000305689:P138T	ENSP00000305689:P138T	P	+	1	0	AFF1	88187144	0.000000	0.05858	0.999000	0.59377	0.020000	0.10135	0.002000	0.13061	2.748000	0.94277	0.655000	0.94253	CCA		0.572	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		15	33	15	33	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714866	183714866	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:183714866C>A	ENST00000511685.1	+	26	7164	c.7041C>A	c.(7039-7041)acC>acA	p.T2347T	TENM3_ENST00000406950.2_Silent_p.T2347T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2347					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCCACTCACCAAATTAATCC	0.408																																						ENST00000511685.1																			0											c.(7039-7041)acC>acA		teneurin transmembrane protein 3							117.0	115.0	116.0					4																	183714866		1854	4088	5942	SO:0001819	synonymous_variant	55714							g.chr4:183714866C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7041C>A	4.37:g.183714866C>A						TENM3_ENST00000406950.2_Silent_p.T2347T	p.T2347T							26	7164	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.7041C>A	CCDS47165.1																																																																																				0.408	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			21	33	21	33	---	---	---	---
STOX2	56977	broad.mit.edu	37	4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:184930515C>A	ENST00000308497.4	+	3	1959	c.524C>A	c.(523-525)cCc>cAc	p.P175H	STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	175					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTCCGCAACCCGGGACCATC	0.537																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(523-525)cCc>cAc		storkhead box 2							91.0	96.0	94.0					4																	184930515		2135	4228	6363	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930515C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.524C>A	4.37:g.184930515C>A	ENSP00000311257:p.Pro175His					STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	1959	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	175					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.524C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955384	0.53293	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.77489	-0.1;-1.1;-1.06	5.25	5.25	0.73442	.	0.162937	0.56097	D	0.000031	T	0.72260	0.3438	L	0.39898	1.24	0.46874	D	0.999233	B	0.22909	0.077	B	0.30782	0.12	T	0.68119	-0.5493	10	0.44086	T	0.13	-15.4698	14.0895	0.64980	0.1849:0.8151:0.0:0.0	.	175	Q9P2F5	STOX2_HUMAN	H	175;175;113	ENSP00000311257:P175H;ENSP00000390127:P175H;ENSP00000425388:P113H	ENSP00000311257:P175H	P	+	2	0	STOX2	185167509	1.000000	0.71417	0.126000	0.21872	0.540000	0.34992	6.015000	0.70791	2.894000	0.99253	0.655000	0.94253	CCC		0.537	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		27	57	27	57	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022392	120022392	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:120022392T>C	ENST00000407149.2	+	2	1112	c.903T>C	c.(901-903)acT>acC	p.T301T	PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000379551.2_Silent_p.T278T|PRR16_ENST00000446965.1_Silent_p.T231T			Q569H4	LARGN_HUMAN	proline rich 16	301					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTCAACCACTACAACCGTGT	0.373																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(832-834)acT>acC		proline rich 16							54.0	55.0	54.0					5																	120022392		2203	4299	6502	SO:0001819	synonymous_variant	51334							g.chr5:120022392T>C	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.903T>C	5.37:g.120022392T>C						PRR16_ENST00000407149.2_Silent_p.T301T|PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T	p.T278T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	1191	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	301			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.834T>C																																																																																					0.373	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		18	19	18	19	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773100	140773100	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140773100G>A	ENST00000398604.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	240	Cadherin 2. {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(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCCCCGGTTTTTCCTC	0.582																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(718-720)ccG>ccA									76.0	82.0	80.0					5																	140773100		2077	4232	6309	SO:0001819	synonymous_variant	9708							g.chr5:140773100G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.720G>A	5.37:g.140773100G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P240P	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	720	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.720G>A	CCDS47291.1																																																																																				0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		26	64	26	64	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694233	141694233	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:141694233C>T	ENST00000434127.2	-	2	684	c.441G>A	c.(439-441)gcG>gcA	p.A147A	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.A170A	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	147					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGGACCGCCGGGCCCT	0.652									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(508-510)gcG>gcA		sprouty homolog 4 (Drosophila)							46.0	52.0	50.0					5																	141694233		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694233C>T	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.441G>A	5.37:g.141694233C>T						SPRY4_ENST00000434127.2_Silent_p.A147A	p.A170A	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	696	-		all_hematologic(541;0.118)	147			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.510G>A	CCDS47296.1																																																																																				0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			6	86	6	86	---	---	---	---
TTC1	7265	broad.mit.edu	37	5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:159437759G>T	ENST00000231238.5	+	2	334	c.224G>T	c.(223-225)gGa>gTa	p.G75V	TTC1_ENST00000522793.1_Missense_Mutation_p.G75V|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	75					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGGAGCCAGGAGCGGACAAG	0.463																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(223-225)gGa>gTa		tetratricopeptide repeat domain 1							59.0	57.0	58.0					5																	159437759		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437759G>T	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.224G>T	5.37:g.159437759G>T	ENSP00000231238:p.Gly75Val					TTC1_ENST00000522793.1_Missense_Mutation_p.G75V	p.G75V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	334	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	75					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.224G>T	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	G	6.686	0.495170	0.12762	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18502	2.21;2.21	5.09	4.21	0.49690	.	0.514876	0.20452	N	0.092076	T	0.14356	0.0347	L	0.46157	1.445	0.43988	D	0.99668	B	0.10296	0.003	B	0.06405	0.002	T	0.05273	-1.0895	10	0.27082	T	0.32	-2.5107	8.5084	0.33201	0.1031:0.0:0.8969:0.0	.	75	Q99614	TTC1_HUMAN	V	75	ENSP00000231238:G75V;ENSP00000429225:G75V	ENSP00000231238:G75V	G	+	2	0	TTC1	159370337	0.017000	0.18338	0.472000	0.27241	0.168000	0.22595	1.246000	0.32803	2.364000	0.80123	0.555000	0.69702	GGA		0.463	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		5	15	5	15	---	---	---	---
C5orf45	51149	broad.mit.edu	37	5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:179264557G>A	ENST00000292586.6	-	7	956	c.866C>T	c.(865-867)aCa>aTa	p.T289I	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR|SQSTM1_ENST00000376929.3_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	289										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACGGGGTGTGTGGCCCGAGG	0.662																																						ENST00000292586.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(865-867)aCa>aTa		chromosome 5 open reading frame 45							84.0	87.0	86.0					5																	179264557		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264557G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.866C>T	5.37:g.179264557G>A	ENSP00000292586:p.Thr289Ile					C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I	p.T289I	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN			7	956	-			289					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.866C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955408	0.18507	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.08546	3.08;3.08;3.08	3.64	1.81	0.25067	.	1.050320	0.07479	N	0.903474	T	0.06508	0.0167	L	0.35414	1.06	0.09310	N	0.999999	B;B	0.33318	0.408;0.408	B;B	0.27076	0.076;0.076	T	0.38779	-0.9645	10	0.45353	T	0.12	0.019	5.3946	0.16263	0.2677:0.0:0.7323:0.0	.	234;289	E9PAK6;Q6NTE8	.;CE045_HUMAN	I	234;155;289	ENSP00000366130:T234I;ENSP00000429107:T155I;ENSP00000292586:T289I	ENSP00000292586:T289I	T	-	2	0	C5orf45	179197163	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.859000	0.27858	0.501000	0.28013	0.491000	0.48974	ACA		0.662	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		34	66	34	66	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:37336834A>G	ENST00000373479.4	+	3	1008	c.815A>G	c.(814-816)aAt>aGt	p.N272S	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.N272S	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	272					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCCGTTATGAATGTGAAAAAG	0.453																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(814-816)aAt>aGt		ring finger protein 8, E3 ubiquitin protein ligase							76.0	79.0	78.0					6																	37336834		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336834A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.815A>G	6.37:g.37336834A>G	ENSP00000362578:p.Asn272Ser					RNF8_ENST00000469731.1_Missense_Mutation_p.N272S|RNF8_ENST00000479516.1_3'UTR	p.N272S	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	1008	+			272					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.815A>G	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410994	0.25465	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.82081	-1.57;0.97	6.07	2.24	0.28232	.	0.551133	0.19869	N	0.104255	T	0.55689	0.1936	L	0.39397	1.21	0.80722	D	1	B	0.17852	0.024	B	0.12837	0.008	T	0.50833	-0.8781	10	0.16896	T	0.51	-3.324	6.5867	0.22624	0.632:0.2158:0.1521:0.0	.	272	O76064	RNF8_HUMAN	S	272	ENSP00000362578:N272S;ENSP00000418879:N272S	ENSP00000362578:N272S	N	+	2	0	RNF8	37444812	0.341000	0.24801	1.000000	0.80357	0.693000	0.40251	0.461000	0.21940	1.123000	0.41961	0.533000	0.62120	AAT		0.453	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			11	30	11	30	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599811	76599811	+	Missense_Mutation	SNP	A	A	G	rs370750657		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:76599811A>G	ENST00000369977.3	+	26	2835	c.2696A>G	c.(2695-2697)tAt>tGt	p.Y899C	MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369981.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	899					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAGAATATGATGCACTG	0.368																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2695-2697)tAt>tGt		myosin VI		A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	83.0	90.0	87.0		2696	5.8	1.0	6		87	0,8600		0,0,4300	no	missense	MYO6	NM_004999.3	194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	899/1286	76599811	1,13005	2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599811A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2696A>G	6.37:g.76599811A>G	ENSP00000358994:p.Tyr899Cys					MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C	p.Y899C			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	2975	+		all_hematologic(105;0.189)	899					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2696A>G	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602854	0.66445	2.27E-4	0.0	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;D;T;T	0.89343	2.2;-2.5;2.2;2.2	5.84	5.84	0.93424	.	0.126220	0.56097	D	0.000036	D	0.91653	0.7362	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.983;0.995	D	0.92304	0.5852	10	0.56958	D	0.05	.	16.216	0.82217	1.0:0.0:0.0:0.0	.	899;899	Q9UM54-2;Q9UM54-1	.;.	C	899	ENSP00000358998:Y899C;ENSP00000359002:Y899C;ENSP00000358994:Y899C;ENSP00000358992:Y899C	ENSP00000358992:Y899C	Y	+	2	0	MYO6	76656531	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	8.097000	0.89539	2.228000	0.72767	0.482000	0.46254	TAT		0.368	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		3	48	3	48	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:138655654C>T	ENST00000251691.4	+	33	5837	c.5671C>T	c.(5671-5673)Cct>Tct	p.P1891S		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGTCCAGCCTGTCAGCAA	0.572																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5671-5673)Cct>Tct		KIAA1244							37.0	36.0	37.0					6																	138655654		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655654C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5671C>T	6.37:g.138655654C>T	ENSP00000251691:p.Pro1891Ser						p.P1891S	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5837	+	Breast(32;0.135)		1891						Missense_Mutation	SNP	ENST00000251691.4	37	c.5671C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844972	0.71603	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.36157	1.27	5.61	5.61	0.85477	.	0.175820	0.51477	D	0.000100	T	0.46718	0.1407	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41378	-0.9512	10	0.56958	D	0.05	-35.5044	19.624	0.95671	0.0:1.0:0.0:0.0	.	1891	Q5TH69	BIG3_HUMAN	S	1891;56	ENSP00000251691:P1891S	ENSP00000251691:P1891S	P	+	1	0	KIAA1244	138697347	1.000000	0.71417	0.998000	0.56505	0.339000	0.28857	7.612000	0.82975	2.638000	0.89438	0.411000	0.27672	CCT		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	13	9	13	---	---	---	---
DYNLT1	6993	broad.mit.edu	37	6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:159057917A>C	ENST00000367089.3	-	5	314	c.284T>G	c.(283-285)gTg>gGg	p.V95G	DYNLT1_ENST00000367088.1_3'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	95	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CTCCCATCGCACAGTGCAGCT	0.512																																						ENST00000367089.3																			0				lung(2)	2						c.(283-285)gTg>gGg		dynein, light chain, Tctex-type 1							61.0	48.0	53.0					6																	159057917		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	g.chr6:159057917A>C	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"""Cytoplasmic dyneins"""	11697	protein-coding gene	gene with protein product		601554	"""t-complex-associated-testis-expressed 1-like 1"""	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.284T>G	6.37:g.159057917A>C	ENSP00000356056:p.Val95Gly					DYNLT1_ENST00000367088.1_3'UTR	p.V95G	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	5	314	-		Breast(66;0.00519)|Ovarian(120;0.123)	95			Interaction with GNB1 (By similarity).		Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.284T>G	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514234	0.85389	.	.	ENSG00000146425	ENST00000367089	T	0.32753	1.44	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.93550	3.43	0.80722	D	1	P	0.42556	0.783	P	0.57371	0.819	T	0.59841	-0.7378	10	0.34782	T	0.22	-15.5635	15.2016	0.73142	1.0:0.0:0.0:0.0	.	95	P63172	DYLT1_HUMAN	G	95	ENSP00000356056:V95G	ENSP00000356056:V95G	V	-	2	0	DYNLT1	158977905	1.000000	0.71417	0.961000	0.40146	0.994000	0.84299	6.915000	0.75770	2.048000	0.60808	0.528000	0.53228	GTG		0.512	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		3	17	3	17	---	---	---	---
PSMG3	84262	broad.mit.edu	37	7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:1608783T>C	ENST00000288607.2	-	1	846	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	65										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AGAAGGACTTTTGTGGTGAGC	0.602																																						ENST00000288607.2																			0				lung(2)	2						c.(193-195)Aaa>Gaa		proteasome (prosome, macropain) assembly chaperone 3							72.0	71.0	72.0					7																	1608783		2201	4294	6495	SO:0001583	missense	84262							g.chr7:1608783T>C	BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.193A>G	7.37:g.1608783T>C	ENSP00000288607:p.Lys65Glu					PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	p.K65E	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)	1	846	-		Ovarian(82;0.11)	65					A4D216|A8MPW2	Missense_Mutation	SNP	ENST00000288607.2	37	c.193A>G	CCDS5327.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301177	0.40694	.	.	ENSG00000157778	ENST00000288607;ENST00000404674;ENST00000252329	.	.	.	5.43	2.85	0.33270	.	0.251894	0.44285	D	0.000462	T	0.53899	0.1825	M	0.77103	2.36	0.33466	D	0.585617	P	0.36125	0.538	B	0.37047	0.24	T	0.68864	-0.5296	9	0.59425	D	0.04	-7.6194	12.1107	0.53838	0.0:0.0:0.2709:0.7291	.	65	Q9BT73	PSMG3_HUMAN	E	65	.	ENSP00000252329:K65E	K	-	1	0	PSMG3	1575309	1.000000	0.71417	0.031000	0.17742	0.190000	0.23558	4.429000	0.59901	0.851000	0.35264	0.460000	0.39030	AAA		0.602	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000239254.2	NM_032302		19	24	19	24	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:32591878C>T	ENST00000318709.4	+	6	721	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_ENST00000409301.1_Missense_Mutation_p.A167V|AVL9_ENST00000404479.1_Missense_Mutation_p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	167					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGAGGTGCTTCATTAGAA	0.313																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(499-501)gCt>gTt		AVL9 homolog (S. cerevisiase)							47.0	49.0	49.0					7																	32591878		2203	4298	6501	SO:0001583	missense	23080					integral to membrane		g.chr7:32591878C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.500C>T	7.37:g.32591878C>T	ENSP00000315568:p.Ala167Val					AVL9_ENST00000404479.1_Missense_Mutation_p.A167V|AVL9_ENST00000409301.1_Missense_Mutation_p.A167V	p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			6	721	+			167					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.500C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487064	0.44249	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.65	4.75	0.60458	.	0.449637	0.26800	N	0.022431	T	0.30665	0.0772	N	0.20685	0.6	0.27608	N	0.948765	B;B;B	0.15141	0.012;0.003;0.012	B;B;B	0.24701	0.055;0.016;0.055	T	0.13737	-1.0498	9	.	.	.	-9.5758	15.4351	0.75140	0.0:0.6102:0.3898:0.0	.	167;167;167	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	V	167;167;167;167;98	ENSP00000315568:A167V;ENSP00000387011:A167V;ENSP00000385242:A167V;ENSP00000395134:A98V	.	A	+	2	0	AVL9	32558403	0.904000	0.30761	0.998000	0.56505	0.963000	0.63663	1.708000	0.37899	1.468000	0.48064	0.650000	0.86243	GCT		0.313	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		3	16	3	16	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:48266865C>A	ENST00000435803.1	+	6	499	c.475C>A	c.(475-477)Ctc>Atc	p.L159I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	159					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGATGGATCTCAATAAGAC	0.388																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(475-477)Ctc>Atc		ATP-binding cassette, sub-family A (ABC1), member 13							128.0	122.0	124.0					7																	48266865		1814	4085	5899	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48266865C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.475C>A	7.37:g.48266865C>A	ENSP00000411096:p.Leu159Ile						p.L159I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			6	499	+			159					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.475C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797966	0.50208	.	.	ENSG00000179869	ENST00000435803	T	0.32515	1.45	5.55	5.55	0.83447	.	0.000000	0.38959	N	0.001518	T	0.51312	0.1667	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.36335	-0.9752	10	0.26408	T	0.33	.	15.0079	0.71527	0.0:1.0:0.0:0.0	.	159;159	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	I	159	ENSP00000411096:L159I	ENSP00000409268:L159I	L	+	1	0	ABCA13	48237411	1.000000	0.71417	0.945000	0.38365	0.155000	0.21991	1.620000	0.36976	2.591000	0.87537	0.557000	0.71058	CTC		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	75	4	75	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:97860340C>T	ENST00000447648.2	-	15	2514	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	739					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAAGATGTCCCCCTTGCAG	0.692																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2215-2217)Gac>Aac		tectonin beta-propeller repeat containing 1							32.0	40.0	37.0					7																	97860340		2039	4193	6232	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97860340C>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2215G>A	7.37:g.97860340C>T	ENSP00000404923:p.Asp739Asn					TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N	p.D739N			Q7Z6L1	TCPR1_HUMAN			15	2514	-			739					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2215G>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427629	0.96131	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.59772	0.26;0.24;0.35	4.66	4.66	0.58398	.	0.146843	0.64402	D	0.000011	T	0.75649	0.3878	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.973;0.983	T	0.79692	-0.1697	10	0.87932	D	0	-42.454	16.9656	0.86285	0.0:1.0:0.0:0.0	.	669;739	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	N	739;740;669	ENSP00000404923:D739N;ENSP00000369121:D740N;ENSP00000441121:D669N	ENSP00000369121:D740N	D	-	1	0	TECPR1	97698276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.765000	0.85310	2.319000	0.78375	0.456000	0.33151	GAC		0.692	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		6	36	6	36	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:103124148T>A	ENST00000428762.1	-	62	10292	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3378					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCTTTGGCTGGTGCTGGGC	0.537																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(10132-10134)cAg>cTg		reelin							274.0	232.0	247.0					7																	103124148		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124148T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10133A>T	7.37:g.103124148T>A	ENSP00000392423:p.Gln3378Leu					CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L	p.Q3378L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	62	10292	-			3378					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.10133A>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068033	0.55539	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	N	0.22421	0.69	0.54753	D	0.999981	P;P	0.47409	0.841;0.895	P;P	0.53401	0.708;0.725	T	0.03008	-1.1083	10	0.11485	T	0.65	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	3378;3378	P78509-2;P78509	.;RELN_HUMAN	L	3378;3378;3378;895;3378	ENSP00000392423:Q3378L;ENSP00000345694:Q3378L;ENSP00000388446:Q3378L	ENSP00000345694:Q3378L	Q	-	2	0	RELN	102911384	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.281000	0.76405	0.533000	0.62120	CAG		0.537	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		42	154	42	154	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:117501355C>G	ENST00000160373.3	-	2	188	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	33					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATCCACATCAAACTCT	0.458																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(97-99)Gtg>Ctg		cortactin binding protein 2							42.0	38.0	40.0					7																	117501355		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117501355C>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.97G>C	7.37:g.117501355C>G	ENSP00000160373:p.Val33Leu						p.V33L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	2	188	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		33					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.97G>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003771	0.19199	.	.	ENSG00000077063	ENST00000160373	T	0.47528	0.84	5.63	4.74	0.60224	Cortactin-binding protein-2, N-terminal (1);	0.183587	0.46758	N	0.000276	T	0.36853	0.0982	N	0.21142	0.635	0.45676	D	0.998599	B	0.18310	0.027	B	0.27262	0.078	T	0.11690	-1.0577	10	0.27082	T	0.32	-22.9422	15.0477	0.71841	0.1434:0.8566:0.0:0.0	.	33	Q8WZ74	CTTB2_HUMAN	L	33	ENSP00000160373:V33L	ENSP00000160373:V33L	V	-	1	0	CTTNBP2	117288591	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.935000	0.48963	1.474000	0.48178	0.591000	0.81541	GTG		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	19	3	19	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G	rs377176348		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:138833005A>G	ENST00000464848.1	+	7	679	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	200					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGTTGGATTACTATGATGTG	0.393																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(598-600)tAc>tGc		tetratricopeptide repeat domain 26		A	CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	266.0	233.0	244.0		599,506,599	5.5	1.0	7		244	0,8600		0,0,4300	no	missense,missense,missense	TTC26	NM_001144920.1,NM_001144923.1,NM_024926.2	194,194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	200/488,169/524,200/555	138833005	1,13005	2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138833005A>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.599A>G	7.37:g.138833005A>G	ENSP00000419279:p.Tyr200Cys					TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron	p.Y200C			A0AVF1	TTC26_HUMAN			7	679	+			200					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.599A>G	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580850	0.86748	2.27E-4	0.0	ENSG00000105948	ENST00000430935;ENST00000474035;ENST00000464848;ENST00000343187	T;T;T;T	0.75704	-0.96;-0.96;-0.96;1.19	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.999;0.998;0.996;1.0	D	0.91227	0.5011	10	0.66056	D	0.02	.	15.5524	0.76164	1.0:0.0:0.0:0.0	.	169;200;200;169;200	F8W724;C9J2N7;A0AVF1;B7Z5M0;Q96CU4	.;.;TTC26_HUMAN;.;.	C	200;200;200;169	ENSP00000410655:Y200C;ENSP00000443253:Y200C;ENSP00000419279:Y200C;ENSP00000339135:Y169C	ENSP00000339135:Y169C	Y	+	2	0	TTC26	138483545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.913000	0.92730	2.083000	0.62718	0.533000	0.62120	TAC		0.393	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		4	73	4	73	---	---	---	---
TRBV6-6	28601	broad.mit.edu	37	7	142162078	142162078	+	RNA	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:142162078T>A	ENST00000390371.3	-	0	240									T cell receptor beta variable 6-6																		AACTGAATAATAAATCAGCTT	0.478																																						ENST00000390371.3																			0																				183.0	182.0	182.0					7																	142162078		1951	4128	6079			28601							g.chr7:142162078T>A	L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142162078T>A														0	240	-									RNA	SNP	ENST00000390371.3	37																																																																																						0.478	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351215.2	NG_001333		69	81	69	81	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:85686864A>G	ENST00000521268.1	+	3	1412	c.307A>G	c.(307-309)Aag>Gag	p.K103E	RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E|RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	103							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACCTGGAAACAAGAGGCCCCT	0.353																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(307-309)Aag>Gag		RALY RNA binding protein-like							63.0	62.0	63.0					8																	85686864		1828	4092	5920	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85686864A>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.307A>G	8.37:g.85686864A>G	ENSP00000430367:p.Lys103Glu					RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E	p.K103E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			3	1412	+			103					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.307A>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590633	0.86851	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.38722	2.71;2.71;2.71;2.63;2.71;1.59;1.12	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.092488	0.64402	D	0.000001	T	0.63034	0.2477	M	0.82517	2.595	0.36582	D	0.87361	B;D;D;P;D	0.61080	0.44;0.989;0.971;0.733;0.989	B;P;P;P;P	0.58970	0.186;0.849;0.54;0.493;0.849	T	0.75110	-0.3433	10	0.87932	D	0	-9.7315	13.5029	0.61467	1.0:0.0:0.0:0.0	.	103;103;30;116;103	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	E	103;103;103;103;116;30;30	ENSP00000430394:K103E;ENSP00000428667:K103E;ENSP00000430367:K103E;ENSP00000430065:K103E;ENSP00000430128:K116E;ENSP00000428807:K30E;ENSP00000428310:K30E	ENSP00000430128:K116E	K	+	1	0	RALYL	85849419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.223000	0.78033	2.172000	0.68678	0.533000	0.62120	AAG		0.353	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			6	11	6	11	---	---	---	---
CA2	760	broad.mit.edu	37	8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:86386011A>T	ENST00000285379.5	+	3	552	c.322A>T	c.(322-324)Act>Tct	p.T108S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	108					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTCAGAGCATACTGTGGATAA	0.343																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(322-324)Act>Tct		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						92.0	97.0	95.0					8																	86386011		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386011A>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.322A>T	8.37:g.86386011A>T	ENSP00000285379:p.Thr108Ser						p.T108S	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			3	552	+			108					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.322A>T	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726774	0.69074	.	.	ENSG00000104267	ENST00000285379	T	0.71222	-0.55	5.56	4.39	0.52855	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.043926	0.85682	N	0.000000	T	0.73194	0.3556	M	0.70842	2.15	0.80722	D	1	B	0.30482	0.281	B	0.39771	0.309	T	0.72327	-0.4327	10	0.59425	D	0.04	-2.5428	10.9715	0.47442	0.8525:0.0:0.0:0.1475	.	108	P00918	CAH2_HUMAN	S	108	ENSP00000285379:T108S	ENSP00000285379:T108S	T	+	1	0	CA2	86573263	0.937000	0.31787	0.978000	0.43139	0.554000	0.35429	3.724000	0.54962	0.919000	0.36945	0.454000	0.30748	ACT		0.343	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		19	33	19	33	---	---	---	---
SNX31	169166	broad.mit.edu	37	8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:101612611A>T	ENST00000311812.2	-	9	890	c.740T>A	c.(739-741)tTa>tAa	p.L247*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	247					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAAAGCTTCTAATTTCTGCCT	0.363																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(739-741)tTa>tAa		sorting nexin 31							217.0	202.0	207.0					8																	101612611		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612611A>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.740T>A	8.37:g.101612611A>T	ENSP00000312368:p.Leu247*					SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	p.L247*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	890	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		247					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.740T>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864359	0.91511	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	4.85	4.85	0.62838	.	0.000000	0.39615	N	0.001310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2686	12.0697	0.53609	1.0:0.0:0.0:0.0	.	.	.	.	X	247;148	.	ENSP00000312368:L247X	L	-	2	0	SNX31	101681787	0.993000	0.37304	0.455000	0.27031	0.732000	0.41865	5.481000	0.66826	2.030000	0.59900	0.455000	0.32223	TTA		0.363	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		17	103	17	103	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:124664821A>G	ENST00000325995.7	-	1	369	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTTGGGGAACTGTAGCATG	0.567																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(346-348)Ttc>Ctc		kelch-like family member 38							52.0	58.0	56.0					8																	124664821		2020	4174	6194	SO:0001583	missense	340359							g.chr8:124664821A>G		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.346T>C	8.37:g.124664821A>G	ENSP00000321475:p.Phe116Leu					CTD-2552K11.2_ENST00000524355.1_RNA	p.F116L	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	369	-			116					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.346T>C	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134646	0.56828	.	.	ENSG00000175946	ENST00000325995	T	0.63580	-0.05	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.053456	0.85682	D	0.000000	T	0.35595	0.0937	N	0.03238	-0.38	0.35844	D	0.826257	B	0.10296	0.003	B	0.08055	0.003	T	0.41052	-0.9530	10	0.02654	T	1	.	15.4743	0.75465	1.0:0.0:0.0:0.0	.	116	Q2WGJ6	KLH38_HUMAN	L	116	ENSP00000321475:F116L	ENSP00000321475:F116L	F	-	1	0	KLHL38	124734002	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.243000	0.95416	2.070000	0.61991	0.379000	0.24179	TTC		0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			9	33	9	33	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:18941638T>C	ENST00000380534.4	-	3	697	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	140										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTCCCACCTTTATAAGTAGGC	0.493																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(418-420)Aaa>Gaa		family with sequence similarity 154, member A							113.0	100.0	104.0					9																	18941638		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18941638T>C	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.418A>G	9.37:g.18941638T>C	ENSP00000369907:p.Lys140Glu					FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	p.K140E	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	3	697	-			140					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.418A>G	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	t	18.19	3.568714	0.65651	.	.	ENSG00000155875	ENST00000380534	T	0.19806	2.12	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.33673	0.0871	M	0.82323	2.585	0.80722	D	1	P	0.36683	0.565	B	0.40825	0.341	T	0.20672	-1.0268	10	0.62326	D	0.03	.	12.2215	0.54437	0.0:0.0:0.0:1.0	.	140	Q8IYX7	F154A_HUMAN	E	140	ENSP00000369907:K140E	ENSP00000369907:K140E	K	-	1	0	FAM154A	18931638	1.000000	0.71417	0.945000	0.38365	0.386000	0.30323	4.150000	0.58098	2.141000	0.66446	0.454000	0.30748	AAA		0.493	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		8	30	8	30	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:27217729A>G	ENST00000380036.4	+	19	3477	c.3035A>G	c.(3034-3036)tAc>tGc	p.Y1012C	TEK_ENST00000519097.1_Missense_Mutation_p.Y864C|TEK_ENST00000406359.4_Missense_Mutation_p.Y969C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1012	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCACTGAATTACAGTGTGTAC	0.438																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3034-3036)tAc>tGc		TEK tyrosine kinase, endothelial							125.0	126.0	125.0					9																	27217729		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217729A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3035A>G	9.37:g.27217729A>G	ENSP00000369375:p.Tyr1012Cys					TEK_ENST00000406359.4_Missense_Mutation_p.Y969C|TEK_ENST00000519097.1_Missense_Mutation_p.Y864C	p.Y1012C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	19	3477	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1012			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3035A>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964890	0.74131	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69435	-0.4;-0.4;-0.4	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41396	D	0.000896	T	0.69851	0.3157	N	0.20610	0.595	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.74583	-0.3617	10	0.66056	D	0.02	.	14.0144	0.64515	1.0:0.0:0.0:0.0	.	864;1045;1012	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	C	864;1012;969	ENSP00000430686:Y864C;ENSP00000369375:Y1012C;ENSP00000383977:Y969C	ENSP00000369375:Y1012C	Y	+	2	0	TEK	27207729	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.030000	0.93725	1.955000	0.56771	0.482000	0.46254	TAC		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			16	31	16	31	---	---	---	---
FOXB2	442425	broad.mit.edu	37	9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:79635159C>G	ENST00000376708.1	+	1	589	c.589C>G	c.(589-591)Cag>Gag	p.Q197E		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	197					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCTCCCGTCACAGCCCCCGCA	0.761																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(589-591)Cag>Gag		forkhead box B2							9.0	14.0	12.0					9																	79635159		1879	3698	5577	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635159C>G		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.589C>G	9.37:g.79635159C>G	ENSP00000365898:p.Gln197Glu						p.Q197E	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	589	+			197						Missense_Mutation	SNP	ENST00000376708.1	37	c.589C>G	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	5.075	0.199553	0.09652	.	.	ENSG00000204612	ENST00000376708	T	0.39229	1.09	3.44	3.44	0.39384	.	.	.	.	.	T	0.25306	0.0615	N	0.22421	0.69	0.25075	N	0.990961	B	0.14438	0.01	B	0.08055	0.003	T	0.13899	-1.0492	9	0.02654	T	1	.	12.3811	0.55307	0.0:1.0:0.0:0.0	.	197	Q5VYV0	FOXB2_HUMAN	E	197	ENSP00000365898:Q197E	ENSP00000365898:Q197E	Q	+	1	0	FOXB2	78824979	0.002000	0.14202	0.997000	0.53966	0.696000	0.40369	0.246000	0.18160	1.447000	0.47661	0.462000	0.41574	CAG		0.761	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		14	26	14	26	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:26500819C>G	ENST00000265944.5	+	35	4944	c.4778C>G	c.(4777-4779)gCa>gGa	p.A1593G	MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1593					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGAGCCAGCAGCCAACCCC	0.652																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4777-4779)gCa>gGa		myosin IIIA							50.0	57.0	55.0					10																	26500819		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500819C>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4778C>G	10.37:g.26500819C>G	ENSP00000265944:p.Ala1593Gly					MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	p.A1593G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			35	4944	+			1593					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4778C>G	CCDS7148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.340472|1.340472	0.24339|0.24339	.|.	.|.	ENSG00000095777|ENSG00000095777	ENST00000265944|ENST00000543632	T|T	0.78481|0.75704	-1.18|-0.96	4.77|4.77	0.559|0.559	0.17272|0.17272	.|.	0.639575|.	0.15627|.	N|.	0.252582|.	T|T	0.54029|0.54029	0.1833|0.1833	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.04013|0.01281	0.001|0.0	T|T	0.48198|0.48198	-0.9056|-0.9056	10|9	0.21014|0.87932	T|D	0.42|0	.|.	2.3943|2.3943	0.04386|0.04386	0.2631:0.3587:0.2809:0.0973|0.2631:0.3587:0.2809:0.0973	.|.	1593|608	Q8NEV4|F5H0U9	MYO3A_HUMAN|.	G|R	1593|608	ENSP00000265944:A1593G|ENSP00000445909:S608R	ENSP00000265944:A1593G|ENSP00000445909:S608R	A|S	+|+	2|3	0|2	MYO3A|MYO3A	26540825|26540825	0.028000|0.028000	0.19301|0.19301	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	1.623000|1.623000	0.37008|0.37008	0.585000|0.585000	0.29608|0.29608	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.652	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		10	24	10	24	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:70673953C>A	ENST00000373585.3	+	7	1189	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	361						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTGCAACTACTGTGGAAGTA	0.348																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1081-1083)aCt>aAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							59.0	56.0	57.0					10																	70673953		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70673953C>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1082C>A	10.37:g.70673953C>A	ENSP00000362687:p.Thr361Asn						p.T361N	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			7	1189	+			361					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1082C>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030752	0.75504	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04551	3.6	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	M	0.64080	1.96	0.80722	D	1	P;P	0.52316	0.768;0.952	B;P	0.51701	0.263;0.677	T	0.03296	-1.1051	10	0.25751	T	0.34	-13.5078	19.7394	0.96219	0.0:1.0:0.0:0.0	.	361;361	Q9BQ39;B4DED6	DDX50_HUMAN;.	N	361	ENSP00000362687:T361N	ENSP00000362687:T361N	T	+	2	0	DDX50	70343959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	ACT		0.348	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		13	14	13	14	---	---	---	---
GLUD1P3	2749	broad.mit.edu	37	10	75488174	75488174	+	RNA	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:75488174A>C	ENST00000507952.1	+	0	0				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA					glutamate dehydrogenase 1 pseudogene 3																		GCAGACTGAAATGCAAAAGCT	0.448																																						ENST00000399449.3																			0																																																			0							g.chr10:75488174A>C	X66316		10q22.2	2012-04-17	2010-01-18	2010-01-18	ENSG00000250959	ENSG00000250959			4338	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 3"", ""chromosome 10 open reading frame 102"""	GLUDP3, C10orf102		8486350	Standard	NR_048575		Approved	Em:AC022400.11	uc031pvx.1		OTTHUMG00000018477		10.37:g.75488174A>C						RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA								0	199	-									RNA	SNP	ENST00000507952.1	37																																																																																						0.448	GLUD1P3-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000416578.1			3	37	3	37	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:26681858T>C	ENST00000256737.3	+	27	3665	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_ENST00000531568.1_Missense_Mutation_p.V792A|ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	938					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTCCAGACGTACCAAAGGGT	0.383																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2812-2814)gTa>gCa		anoctamin 3							150.0	135.0	140.0					11																	26681858		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26681858T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2813T>C	11.37:g.26681858T>C	ENSP00000256737:p.Val938Ala					ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A	p.V938A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			27	3665	+			938					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2813T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941540	0.73557	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.65	5.65	0.86999	.	0.146153	0.64402	D	0.000014	T	0.67221	0.2870	M	0.70842	2.15	0.42617	D	0.99333	B;B	0.28584	0.216;0.037	B;B	0.35971	0.215;0.079	T	0.69676	-0.5081	10	0.87932	D	0	.	15.8677	0.79076	0.0:0.0:0.0:1.0	.	840;938	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	A	922;922;938;840;792	ENSP00000440737:V922A;ENSP00000432576:V922A;ENSP00000256737:V938A;ENSP00000432394:V792A	ENSP00000256737:V938A	V	+	2	0	ANO3	26638434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.154000	0.67381	0.528000	0.53228	GTA		0.383	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		26	49	26	49	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:46897058T>G	ENST00000378623.1	-	27	4116	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1292					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTGGCAGGTTGGACCTCACG	0.597																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3874-3876)Aac>Cac		low density lipoprotein receptor-related protein 4							66.0	56.0	59.0					11																	46897058		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897058T>G	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3874A>C	11.37:g.46897058T>G	ENSP00000367888:p.Asn1292His						p.N1292H	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	27	4116	-			1292					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3874A>C	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633918	0.67130	.	.	ENSG00000134569	ENST00000378623	D	0.91068	-2.78	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	L	0.56199	1.76	0.80722	D	1	B	0.21520	0.057	B	0.24006	0.05	D	0.84435	0.0579	10	0.23302	T	0.38	.	16.1041	0.81209	0.0:0.0:0.0:1.0	.	1292	O75096	LRP4_HUMAN	H	1292	ENSP00000367888:N1292H	ENSP00000367888:N1292H	N	-	1	0	LRP4	46853634	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.872000	0.63050	2.216000	0.71823	0.454000	0.30748	AAC		0.597	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	30	15	30	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:57100120G>T	ENST00000278412.2	-	6	1013	c.747C>A	c.(745-747)gaC>gaA	p.D249E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	249					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTGGCGCTGGTCCTTGTGGG	0.488																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(745-747)gaC>gaA		structure specific recognition protein 1							86.0	85.0	85.0					11																	57100120		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100120G>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.747C>A	11.37:g.57100120G>T	ENSP00000278412:p.Asp249Glu						p.D249E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			6	1013	-			249					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.747C>A	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745746	0.69418	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.51325	0.71;0.71;0.71	5.8	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	M	0.92317	3.295	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.74979	-0.3479	10	0.87932	D	0	.	10.2265	0.43229	0.1698:0.0:0.8302:0.0	.	249	Q08945	SSRP1_HUMAN	E	249;152;152	ENSP00000278412:D249E;ENSP00000431154:D152E;ENSP00000434546:D152E	ENSP00000278412:D249E	D	-	3	2	SSRP1	56856696	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.392000	0.44433	0.322000	0.23283	0.561000	0.74099	GAC		0.488	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		11	18	11	18	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62760841	62760841	+	Intron	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:62760841C>A	ENST00000336232.2	-	11	1665				SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000311438.8_Silent_p.G528G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8						glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAGCCCTGGGCCCAGACCTGC	0.592																																						ENST00000311438.8																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1582-1584)ggG>ggT		solute carrier family 22 (organic anion transporter), member 8							50.0	50.0	50.0					11																	62760841		2201	4298	6499	SO:0001627	intron_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760841C>A	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1530-33G>T	11.37:g.62760841C>A						SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Intron	p.G528G			Q8TCC7	S22A8_HUMAN			9	1583	-			58					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.1584G>T	CCDS8042.1																																																																																				0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		14	19	14	19	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:67017956C>A	ENST00000529006.2	+	17	2901	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	819					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTGCCCAAGCTGCAGGCCAT	0.622																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2455-2457)Ctg>Atg		lysine (K)-specific demethylase 2A							54.0	61.0	58.0					11																	67017956		2129	4231	6360	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67017956C>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2455C>A	11.37:g.67017956C>A	ENSP00000432786:p.Leu819Met					KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	p.L819M	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	2901	+			819					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.2455C>A	CCDS44657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864853|2.864853	0.51482|0.51482	.|.	.|.	ENSG00000173120|ENSG00000173120	ENST00000446134|ENST00000529006;ENST00000530342;ENST00000308783	.|T;T;T	.|0.26957	.|2.07;1.7;1.77	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.147803	.|0.47455	.|D	.|0.000240	.|T	.|0.31389	.|0.0795	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.72982	.|0.96;0.979	.|T	.|0.24799	.|-1.0150	.|9	.|.	.|.	.|.	.|-4.0851	18.2277|18.2277	0.89923|0.89923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|277;819	.|D4QA03;Q9Y2K7	.|.;KDM2A_HUMAN	.|M	-1|819;380;277	.|ENSP00000432786:L819M;ENSP00000435776:L380M;ENSP00000309302:L277M	.|.	.|L	+|+	.|1	.|2	KDM2A|KDM2A	66774532|66774532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.469000|2.469000	0.45110|0.45110	2.731000|2.731000	0.93534|0.93534	0.655000|0.655000	0.94253|0.94253	.|CTG		0.622	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		12	52	12	52	---	---	---	---
ME3	10873	broad.mit.edu	37	11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:86160951A>T	ENST00000393324.3	-	9	1364	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	ME3_ENST00000543262.1_Missense_Mutation_p.S371T|ME3_ENST00000359636.2_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				AGCCCTTTAGAGTCCACCATC	0.527																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1111-1113)Tct>Act		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						183.0	170.0	174.0					11																	86160951		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86160951A>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1111T>A	11.37:g.86160951A>T	ENSP00000376998:p.Ser371Thr					ME3_ENST00000393324.3_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.S371T	p.S371T	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			10	1437	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	371					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1111T>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462156	0.63513	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.7	4.54	0.55810	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098299	0.64402	D	0.000001	T	0.34861	0.0912	M	0.72353	2.195	0.80722	D	1	B	0.11235	0.004	B	0.25506	0.061	T	0.09357	-1.0678	9	.	.	.	.	12.8352	0.57770	0.8636:0.1364:0.0:0.0	.	371	Q16798	MAON_HUMAN	T	371	ENSP00000352657:S371T;ENSP00000440246:S371T;ENSP00000376998:S371T;ENSP00000431182:S371T	.	S	-	1	0	ME3	85838599	1.000000	0.71417	0.422000	0.26621	0.983000	0.72400	9.204000	0.95041	0.963000	0.38082	0.528000	0.53228	TCT		0.527	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			26	62	26	62	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:92086237G>A	ENST00000298047.6	+	1	976	c.959G>A	c.(958-960)tGg>tAg	p.W320*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGAAAGTGGTTGAATGAG	0.448										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(958-960)tGg>tAg		FAT atypical cadherin 3							75.0	70.0	72.0					11																	92086237		1951	4153	6104	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086237G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.959G>A	11.37:g.92086237G>A	ENSP00000298047:p.Trp320*	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*	p.W320*			Q8TDW7	FAT3_HUMAN			1	976	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	320			Cadherin 3.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.959G>A		.	.	.	.	.	.	.	.	.	.	G	38	6.875215	0.97904	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.075	0.89424	0.0:0.0:1.0:0.0	.	.	.	.	X	320;320;320;170	.	ENSP00000298047:W320X	W	+	2	0	FAT3	91725885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.859000	0.75467	2.568000	0.86640	0.557000	0.71058	TGG		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	14	4	14	---	---	---	---
FOLR4	390243	broad.mit.edu	37	11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:94039857G>A	ENST00000440961.2	+	2	361	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	106					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGGCCCTGGATCCAGCCA	0.537																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(316-318)tGg>tAg		folate receptor 4, delta (putative)							45.0	47.0	47.0					11																	94039857		2010	4203	6213	SO:0001587	stop_gained	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94039857G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.317G>A	11.37:g.94039857G>A	ENSP00000416935:p.Trp106*						p.W106*	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			2	361	+			106						Nonsense_Mutation	SNP	ENST00000440961.2	37	c.317G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.952445|4.952445	0.92660|0.92660	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.66458|.	0.2791|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69450|.	-0.5142|.	3|.	.|.	.|.	.|.	-6.2959|-6.2959	15.6255|15.6255	0.76851|0.76851	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	100|106	.|.	.|.	G|W	+|+	1|2	0|0	FOLR4|FOLR4	93679505|93679505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	9.234000|9.234000	0.95347|0.95347	2.635000|2.635000	0.89317|0.89317	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.537	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		13	29	13	29	---	---	---	---
ATM	472	broad.mit.edu	37	11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:108214036G>A	ENST00000452508.2	+	58	8545	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2786S|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2786	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAATGAAGATGGTGCTCATAA	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8356-8358)Ggt>Agt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							146.0	131.0	136.0					11																	108214036		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108214036G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8356G>A	11.37:g.108214036G>A	ENSP00000388058:p.Gly2786Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	p.G2786S	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8741	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2786			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8356G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008396	0.93346	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.75704	-0.96;-0.96	5.56	4.64	0.57946	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.095716	0.64402	D	0.000001	T	0.80798	0.4692	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.80621	-0.1301	10	0.48119	T	0.1	.	11.7283	0.51722	0.1428:0.0:0.8572:0.0	.	2786	Q13315	ATM_HUMAN	S	2786	ENSP00000278616:G2786S;ENSP00000388058:G2786S	ENSP00000278616:G2786S	G	+	1	0	ATM	107719246	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.638000	0.83328	1.481000	0.48307	0.561000	0.74099	GGT		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		19	59	19	59	---	---	---	---
THYN1	29087	broad.mit.edu	37	11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:134120183C>T	ENST00000341541.3	-	3	738	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	93						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TAGTTACGAACACCATCCCAG	0.493																																						ENST00000341541.3																			0				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(277-279)Gtt>Att		thymocyte nuclear protein 1							155.0	137.0	143.0					11																	134120183		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134120183C>T	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.277G>A	11.37:g.134120183C>T	ENSP00000341657:p.Val93Ile					THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I	p.V93I	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	3	738	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	93					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.277G>A	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165321	0.78339	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	5.73	4.82	0.62117	EVE domain (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.94;0.925	D;P;P	0.87578	0.998;0.593;0.782	T	0.77054	-0.2730	9	0.33940	T	0.23	-15.0393	14.6915	0.69091	0.0:0.9304:0.0:0.0696	.	93;93;93	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	I	93	.	ENSP00000341657:V93I	V	-	1	0	THYN1	133625393	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	5.633000	0.67825	1.442000	0.47568	-0.136000	0.14681	GTT		0.493	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		8	28	8	28	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	863369	863369	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:863369G>A	ENST00000315939.6	+	1	1281	c.638G>A	c.(637-639)gGa>gAa	p.G213E	WNK1_ENST00000535572.1_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000537687.1_Missense_Mutation_p.G213E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	213					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGGCCGTGGGAATGTCTAAC	0.577																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(637-639)gGa>gAa		WNK lysine deficient protein kinase 1							65.0	66.0	65.0					12																	863369		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:863369G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.638G>A	12.37:g.863369G>A	ENSP00000313059:p.Gly213Glu					WNK1_ENST00000315939.6_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E	p.G213E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	1281	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		213					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.638G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142391	0.77888	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.72942	-0.56;-0.55;-0.49;-0.7;-0.52	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000039	T	0.65595	0.2706	N	0.02775	-0.495	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.994	D;D;P	0.70227	0.968;0.93;0.828	T	0.76002	-0.3118	10	0.87932	D	0	-9.6279	14.2198	0.65818	0.0:0.1499:0.8501:0.0	.	213;213;213	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	E	213	ENSP00000441972:G213E;ENSP00000313059:G213E;ENSP00000444465:G213E;ENSP00000392542:G213E;ENSP00000433548:G213E	ENSP00000313059:G213E	G	+	2	0	WNK1	733630	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.319000	0.65835	2.412000	0.81896	0.655000	0.94253	GGA		0.577	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	54	6	54	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:9317890G>T	ENST00000261336.2	-	19	2360	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.L647M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	778					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(2332-2334)Ctg>Atg		pregnancy-zone protein							94.0	81.0	85.0					12																	9317890		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9317890G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2332C>A	12.37:g.9317890G>T	ENSP00000261336:p.Leu778Met					PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR	p.L778M	NM_002864.2	NP_002855.2					19	2360	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2332C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	7.602	0.673019	0.14776	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.31510	1.49;1.49	3.7	2.8	0.32819	Alpha-2-macroglobulin (1);	0.319058	0.22291	U	0.061981	T	0.38612	0.1047	L	0.51914	1.62	0.22591	N	0.998953	D;P;D	0.65815	0.995;0.494;0.988	D;B;D	0.70935	0.951;0.171;0.971	T	0.17440	-1.0369	10	0.35671	T	0.21	.	1.6231	0.02717	0.1988:0.1636:0.4696:0.168	.	778;647;778	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	M	778;647	ENSP00000261336:L778M;ENSP00000371427:L647M	ENSP00000261336:L778M	L	-	1	2	PZP	9209157	0.062000	0.20869	0.992000	0.48379	0.035000	0.12851	-0.296000	0.08287	0.860000	0.35481	0.467000	0.42956	CTG		0.562	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		20	58	20	58	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21392117	21392117	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:21392117T>C	ENST00000256958.2	+	15	2166	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	690					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTGAAACACATTGTTAAGGGG	0.373																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2068-2070)caT>caC		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						81.0	90.0	87.0					12																	21392117		2203	4299	6502	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392117T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2070T>C	12.37:g.21392117T>C							p.H690H	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	2166	+			690					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.2070T>C	CCDS8685.1																																																																																				0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		23	49	23	49	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:32886710A>T	ENST00000549701.1	+	13	1582	c.1508A>T	c.(1507-1509)gAt>gTt	p.D503V	DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000452533.2_Missense_Mutation_p.D503V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	503	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTTGCTGATGCTTGTGGG	0.308																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1507-1509)gAt>gTt		dynamin 1-like							185.0	189.0	188.0					12																	32886710		2203	4299	6502	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32886710A>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1508A>T	12.37:g.32886710A>T	ENSP00000450399:p.Asp503Val					DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V	p.D503V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			13	1672	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		503			B domain.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1508A>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.655832	0.88056	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.55	5.55	0.83447	Dynamin central domain (1);	0.044847	0.85682	D	0.000000	D	0.84392	0.5462	M	0.66939	2.045	0.80722	D	1	D;P;P;P;P;P	0.71674	0.998;0.872;0.872;0.907;0.872;0.728	D;P;P;P;P;P	0.68483	0.958;0.756;0.756;0.642;0.694;0.58	D	0.86258	0.1653	10	0.87932	D	0	.	15.6899	0.77442	1.0:0.0:0.0:0.0	.	300;556;556;569;556;503	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	V	503;569;503;516;503;516;503;503;300;516	ENSP00000415131:D503V;ENSP00000449089:D516V;ENSP00000450399:D503V;ENSP00000350948:D516V;ENSP00000266481:D503V;ENSP00000448610:D503V;ENSP00000404160:D300V;ENSP00000370388:D516V	ENSP00000266479:D503V	D	+	2	0	DNM1L	32777977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.097000	0.94193	2.110000	0.64415	0.533000	0.62120	GAT		0.308	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		13	91	13	91	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:100452198T>A	ENST00000279907.7	-	14	3069	c.2857A>T	c.(2857-2859)Agt>Tgt	p.S953C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	953										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTGTATCACTAGCTGATTTA	0.318																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2857-2859)Agt>Tgt		UHRF1 binding protein 1-like							52.0	55.0	54.0					12																	100452198		2201	4294	6495	SO:0001583	missense	23074							g.chr12:100452198T>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2857A>T	12.37:g.100452198T>A	ENSP00000279907:p.Ser953Cys					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	p.S953C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3069	-			953					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2857A>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334915	0.60853	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.14022	2.57;2.54	5.87	5.87	0.94306	.	0.251259	0.47852	D	0.000215	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.01914	-1.1248	10	0.72032	D	0.01	-17.8309	16.2853	0.82717	0.0:0.0:0.0:1.0	.	953	A0JNW5	UH1BL_HUMAN	C	953;603	ENSP00000279907:S953C;ENSP00000444824:S603C	ENSP00000279907:S953C	S	-	1	0	UHRF1BP1L	98976329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.236000	0.73375	0.528000	0.53228	AGT		0.318	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		10	8	10	8	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	rs80359088		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:32906456G>C	ENST00000380152.3	+	10	1074	c.841G>C	c.(841-843)Gac>Cac	p.D281H	BRCA2_ENST00000544455.1_Missense_Mutation_p.D281H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	281					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGCTGCAAAGACCACATTGG	0.289			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(841-843)Gac>Cac	Homologous recombination	breast cancer 2, early onset							54.0	56.0	55.0					13																	32906456		2202	4294	6496	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32906456G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.841G>C	13.37:g.32906456G>C	ENSP00000369497:p.Asp281His	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H	p.D281H	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1068	+		Lung SC(185;0.0262)	281					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.841G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313898	0.40996	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01133	5.29;5.29	5.74	4.9	0.64082	.	0.250912	0.34435	N	0.003978	T	0.03827	0.0108	L	0.49778	1.585	0.19300	N	0.999979	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.921	T	0.26360	-1.0105	10	0.87932	D	0	.	8.9045	0.35515	0.1687:0.0:0.8313:0.0	.	281;281	P51587;A1YBP1	BRCA2_HUMAN;.	H	281;281;279	ENSP00000369497:D281H;ENSP00000439902:D281H	ENSP00000369497:D281H	D	+	1	0	BRCA2	31804456	0.935000	0.31712	0.397000	0.26308	0.493000	0.33554	3.306000	0.51881	1.435000	0.47434	0.655000	0.94253	GAC		0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	12	12	12	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38213401	38213401	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:38213401T>C	ENST00000379705.3	-	9	2972	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000355779.2_Silent_p.Q705Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	705	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)		TTACTTGGTATTGGTGATGTC	0.338																																						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.(2113-2115)caA>caG		transient receptor potential cation channel, subfamily C, member 4							115.0	123.0	120.0					13																	38213401		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:38213401T>C	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.2115A>G	13.37:g.38213401T>C						TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Silent_p.Q705Q	p.Q705Q			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)	9	2972	-			705			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2115A>G	CCDS9365.1																																																																																				0.338	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	52	22	52	---	---	---	---
TRAV18	28665	broad.mit.edu	37	14	22471727	22471727	+	RNA	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:22471727T>G	ENST00000390446.3	+	0	255									T cell receptor alpha variable 18																		GCTATTCAACTTTTCTATTCT	0.493																																						ENST00000390446.3																			0																				78.0	78.0	78.0					14																	22471727		1896	4119	6015			28665							g.chr14:22471727T>G	AE000660		14q11.2	2012-02-07			ENSG00000211798	ENSG00000211798		"""T cell receptors / TRA locus"""	12114	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV18S1			OTTHUMG00000170644		14.37:g.22471727T>G														0	255	+									RNA	SNP	ENST00000390446.3	37																																																																																						0.493	TRAV18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409892.1	NG_001332		22	25	22	25	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:91338504T>A	ENST00000261991.3	-	17	2496	c.2323A>T	c.(2323-2325)Aca>Tca	p.T775S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	775					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTGGTGGGTGTAGTTTTACCG	0.502																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2323-2325)Aca>Tca		ribosomal protein S6 kinase, 90kDa, polypeptide 5							145.0	127.0	133.0					14																	91338504		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338504T>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2323A>T	14.37:g.91338504T>A	ENSP00000261991:p.Thr775Ser					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	p.T775S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2496	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	775					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2323A>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	5.461	0.270163	0.10349	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.67345	-0.26;-0.26	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.269773	0.37955	N	0.001863	T	0.45637	0.1352	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38845	-0.9642	10	0.21014	T	0.42	.	10.6723	0.45766	0.1427:0.0:0.0:0.8573	.	775	O75582	KS6A5_HUMAN	S	775;696	ENSP00000261991:T775S;ENSP00000442803:T696S	ENSP00000261991:T775S	T	-	1	0	RPS6KA5	90408257	1.000000	0.71417	0.077000	0.20336	0.038000	0.13279	2.838000	0.48199	2.111000	0.64477	0.533000	0.62120	ACA		0.502	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		28	31	28	31	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:22929865G>T	ENST00000313077.7	+	6	664	c.539G>T	c.(538-540)aGt>aTt	p.S180I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAAGTGCAGTGTGAAGAAC	0.572																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(538-540)aGt>aTt		cytoplasmic FMR1 interacting protein 1							132.0	99.0	111.0					15																	22929865		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929865G>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.539G>T	15.37:g.22929865G>T	ENSP00000324549:p.Ser180Ile					CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	p.S180I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	664	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	180						Missense_Mutation	SNP	ENST00000313077.7	37	c.539G>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387092	0.82902	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.47869	0.83	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.84433	2.695	0.80722	D	1	D;B	0.67145	0.996;0.25	D;B	0.71656	0.974;0.273	T	0.78326	-0.2247	10	0.87932	D	0	-10.9763	18.4773	0.90798	0.0:0.0:1.0:0.0	.	208;180	E7EQ04;Q7L576	.;CYFP1_HUMAN	I	180;208	ENSP00000324549:S180I	ENSP00000324549:S180I	S	+	2	0	CYFIP1	20481306	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.658000	0.98594	2.439000	0.82584	0.561000	0.74099	AGT		0.572	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		16	39	16	39	---	---	---	---
ZNF770	54989	broad.mit.edu	37	15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:35275428G>C	ENST00000356321.4	-	3	552	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	70					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTCTCCAGATGAACTAGT	0.363																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(208-210)Ctg>Gtg		zinc finger protein 770							81.0	79.0	80.0					15																	35275428		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275428G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.208C>G	15.37:g.35275428G>C	ENSP00000348673:p.Leu70Val						p.L70V	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	552	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	70					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.208C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268429	0.40095	.	.	ENSG00000198146	ENST00000356321	T	0.25749	1.78	5.0	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000070	T	0.50205	0.1602	M	0.83012	2.62	0.32712	N	0.511483	D	0.71674	0.998	D	0.80764	0.994	T	0.65034	-0.6266	10	0.72032	D	0.01	-2.9131	9.2297	0.37430	0.1621:0.0:0.8379:0.0	.	70	Q6IQ21	ZN770_HUMAN	V	70	ENSP00000348673:L70V	ENSP00000348673:L70V	L	-	1	2	ZNF770	33062720	0.971000	0.33674	0.998000	0.56505	0.987000	0.75469	0.940000	0.28992	1.346000	0.45694	-0.126000	0.14955	CTG		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		6	21	6	21	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:70959286T>A	ENST00000322954.6	-	16	3922	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1246					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGGCCAATTTTTCATTTAA	0.328																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3736-3738)aAa>aTa		uveal autoantigen with coiled-coil domains and ankyrin repeats							123.0	124.0	124.0					15																	70959286		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959286T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3737A>T	15.37:g.70959286T>A	ENSP00000314556:p.Lys1246Ile					UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	p.K1246I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3922	-			1246					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3737A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682204	0.47991	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.39056	1.1;1.11;1.59	5.65	3.37	0.38596	.	0.359565	0.26377	N	0.024722	T	0.48241	0.1489	M	0.66939	2.045	0.25519	N	0.987383	P;P;P;P	0.50710	0.896;0.833;0.898;0.938	B;B;B;P	0.50896	0.43;0.248;0.248;0.653	T	0.40346	-0.9568	10	0.52906	T	0.07	-22.2654	8.7596	0.34667	0.0:0.2132:0.0:0.7868	.	1137;1246;1246;1233	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	1246;1233;1137	ENSP00000314556:K1246I;ENSP00000369319:K1233I;ENSP00000438667:K1137I	ENSP00000314556:K1246I	K	-	2	0	UACA	68746340	0.117000	0.22190	0.701000	0.30321	0.964000	0.63967	1.590000	0.36654	0.443000	0.26582	0.533000	0.62120	AAA		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			23	36	23	36	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:9934873A>T	ENST00000396573.2	-	7	1726	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	473					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGTAAGTAAACTTCACAGTT	0.403																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1417-1419)Ttt>Att		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164.0	141.0	149.0					16																	9934873		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934873A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1417T>A	16.37:g.9934873A>T	ENSP00000379818:p.Phe473Ile					GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I	p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			7	1726	-			473					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1417T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	32	5.191898	0.94923	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.72624	2.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.49447	-0.8939	9	.	.	.	.	14.4772	0.67554	1.0:0.0:0.0:0.0	.	316;473;473	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	473;473;316;473;473	ENSP00000379818:F473I;ENSP00000385872:F473I;ENSP00000441572:F316I;ENSP00000332549:F473I;ENSP00000379820:F473I	.	F	-	1	0	GRIN2A	9842374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.118000	0.94355	2.009000	0.58944	0.459000	0.35465	TTT		0.403	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			31	70	31	70	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:30749840G>A	ENST00000262518.4	+	34	8864	c.8479G>A	c.(8479-8481)Gct>Act	p.A2827T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2827	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCTTCATTGCTCGCCGTCA	0.632																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8479-8481)Gct>Act		Snf2-related CREBBP activator protein							49.0	52.0	51.0					16																	30749840		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749840G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8479G>A	16.37:g.30749840G>A	ENSP00000262518:p.Ala2827Thr					SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T	p.A2827T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8864	+			2827			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8479G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339099	0.11069	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93133	-3.14;-3.17;-3.16	5.21	5.21	0.72293	.	0.000000	0.50627	D	0.000101	D	0.92328	0.7566	N	0.08118	0	0.29249	N	0.872111	D;D	0.67145	0.996;0.993	D;D	0.79784	0.993;0.984	D	0.88876	0.3336	10	0.72032	D	0.01	-11.0385	15.7808	0.78257	0.0:0.0:1.0:0.0	.	2765;2827	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2827;2765;2669	ENSP00000262518:A2827T;ENSP00000378499:A2765T;ENSP00000343042:A2669T	ENSP00000262518:A2827T	A	+	1	0	SRCAP	30657341	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	4.593000	0.61034	2.711000	0.92665	0.591000	0.81541	GCT		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	22	22	22	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:27999097T>G	ENST00000269033.3	-	8	735	c.584A>C	c.(583-585)aAc>aCc	p.N195T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'Flank|SSH2_ENST00000540801.1_Missense_Mutation_p.N222T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	195					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTAGTAGTTATGCGCTCT	0.463																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(583-585)aAc>aCc		slingshot protein phosphatase 2							166.0	146.0	153.0					17																	27999097		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999097T>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.584A>C	17.37:g.27999097T>G	ENSP00000269033:p.Asn195Thr					SSH2_ENST00000540801.1_Missense_Mutation_p.N222T|RP11-68I3.2_ENST00000581474.1_RNA	p.N195T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN			8	735	-			195					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.584A>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	32	5.107431	0.94292	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.36520	1.25;1.25	5.67	5.67	0.87782	.	0.046163	0.85682	D	0.000000	T	0.61476	0.2350	M	0.78456	2.415	0.80722	D	1	D;D;D	0.62365	0.989;0.991;0.981	D;D;P	0.68483	0.958;0.931;0.833	T	0.66448	-0.5921	10	0.87932	D	0	-19.2526	15.8991	0.79359	0.0:0.0:0.0:1.0	.	222;195;195	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	T	195;222;195	ENSP00000269033:N195T;ENSP00000444743:N222T	ENSP00000269033:N195T	N	-	2	0	SSH2	25023223	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.023000	0.88764	2.151000	0.67156	0.421000	0.28195	AAC		0.463	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		18	27	18	27	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:34074193C>T	ENST00000254466.6	-	5	954	c.927G>A	c.(925-927)atG>atA	p.M309I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	309					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGATGGTCATTGTAGGCT	0.612																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(925-927)atG>atA		growth arrest-specific 2 like 2							121.0	128.0	126.0					17																	34074193		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074193C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.927G>A	17.37:g.34074193C>T	ENSP00000254466:p.Met309Ile					GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	p.M309I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	954	-		Ovarian(249;0.17)	309					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.927G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594229	0.46214	.	.	ENSG00000132139	ENST00000254466	T	0.17213	2.29	5.1	5.1	0.69264	.	0.214556	0.39615	N	0.001303	T	0.19886	0.0478	L	0.56769	1.78	0.37889	D	0.930637	P	0.38827	0.649	B	0.36186	0.219	T	0.06320	-1.0833	10	0.48119	T	0.1	-30.1782	15.3692	0.74548	0.0:1.0:0.0:0.0	.	309	Q8NHY3	GA2L2_HUMAN	I	309	ENSP00000254466:M309I	ENSP00000254466:M309I	M	-	3	0	GAS2L2	31098306	1.000000	0.71417	0.995000	0.50966	0.509000	0.34042	1.464000	0.35288	2.644000	0.89710	0.561000	0.74099	ATG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		52	98	52	98	---	---	---	---
GRB7	2886	broad.mit.edu	37	17	37903005	37903005	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:37903005G>A	ENST00000309156.4	+	15	1711	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000445327.2_Splice_Site_p.S508N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	485	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCCCAGAGCGAGGAGGAG	0.607																																						ENST00000309156.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1453-1455)aGc>aAc		growth factor receptor-bound protein 7							74.0	69.0	71.0					17																	37903005		2203	4300	6503	SO:0001630	splice_region_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37903005G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1453-1G>A	17.37:g.37903005G>A						GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000309185.3_3'UTR	p.S485N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		15	1711	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		485			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Splice_Site	SNP	ENST00000309156.4	37	c.1454G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981095	0.34942	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.8	4.8	0.61643	SH2 motif (5);	0.200688	0.52532	D	0.000074	T	0.80380	0.4612	N	0.05592	-0.015	0.80722	D	1	B	0.22983	0.078	B	0.36567	0.228	T	0.74565	-0.3623	10	0.20519	T	0.43	-24.3615	12.4483	0.55664	0.0:0.0:0.8316:0.1684	.	485	Q14451	GRB7_HUMAN	N	485;485;485;508	ENSP00000310771:S485N;ENSP00000377761:S485N;ENSP00000377759:S485N;ENSP00000403459:S508N	ENSP00000310771:S485N	S	+	2	0	GRB7	35156531	0.375000	0.25089	1.000000	0.80357	0.944000	0.59088	0.607000	0.24209	2.494000	0.84150	0.591000	0.81541	AGC		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	Missense_Mutation	5	102	5	102	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44128012	44128012	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:44128012C>T	ENST00000262419.6	-	7	2377	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	636					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCCTGAACCACACAGTGCGCA	0.493																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							101.0	77.0	85.0					17																	44128012		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44128012C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1907G>A	17.37:g.44128012C>T	ENSP00000262419:p.Cys636Tyr					KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000262419.6_Missense_Mutation_p.C636Y				Q7Z3B3	K1267_HUMAN			0	2377	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028032	0.54790	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.20598	2.06;2.06	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.991;0.998	T	0.35992	-0.9766	10	0.72032	D	0.01	-7.6633	16.1399	0.81515	0.0:1.0:0.0:0.0	.	636;636	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Y	636	ENSP00000262419:C636Y;ENSP00000387393:C636Y	ENSP00000262419:C636Y	C	-	2	0	KIAA1267	41483864	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.738000	0.62073	2.880000	0.98712	0.650000	0.86243	TGT		0.493	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	19	4	19	---	---	---	---
ABCC3	8714	broad.mit.edu	37	17	48741195	48741195	+	Silent	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48741195G>T	ENST00000285238.8	+	9	1232	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	ABCC3_ENST00000427699.1_Silent_p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	384	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTCGTACTGGGATCATGGGTG	0.557																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1150-1152)ggG>ggT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						110.0	91.0	97.0					17																	48741195		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741195G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1152G>T	17.37:g.48741195G>T						ABCC3_ENST00000427699.1_Silent_p.G384G	p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		9	1232	+			384			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.1152G>T	CCDS32681.1																																																																																				0.557	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		18	33	18	33	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:58525052G>A	ENST00000083182.3	-	13	1935	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	550					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGAATATTGCCGATCTCGC	0.448																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1648-1650)Caa>Taa		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							196.0	193.0	194.0					17																	58525052		2203	4300	6503	SO:0001587	stop_gained	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58525052G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1648C>T	17.37:g.58525052G>A	ENSP00000083182:p.Gln550*						p.Q550*	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		13	1935	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		550					A8K862|O95095|Q8WVC9	Nonsense_Mutation	SNP	ENST00000083182.3	37	c.1648C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	38	7.208310	0.98136	.	.	ENSG00000062725	ENST00000083182	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.9269	20.0203	0.97492	0.0:0.0:1.0:0.0	.	.	.	.	X	550	.	ENSP00000083182:Q550X	Q	-	1	0	APPBP2	55879834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.730000	0.93505	0.655000	0.94253	CAA		0.448	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		42	85	42	85	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:61908885A>T	ENST00000310144.6	+	10	1297	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	330	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GACATTTTGAAGATTCATTCT	0.542																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(988-990)aAg>aTg		proteasome (prosome, macropain) 26S subunit, ATPase, 5							53.0	57.0	55.0					17																	61908885		2201	4299	6500	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908885A>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.989A>T	17.37:g.61908885A>T	ENSP00000310572:p.Lys330Met					PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M	p.K330M	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			10	1297	+			330					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.989A>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987261	0.74589	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.82923	2.615	0.80722	D	1	P;P	0.47484	0.703;0.896	P;P	0.49477	0.485;0.612	D	0.88294	0.2945	10	0.87932	D	0	.	14.5102	0.67780	1.0:0.0:0.0:0.0	.	322;330	A8K3Z3;P62195	.;PRS8_HUMAN	M	330;322	ENSP00000310572:K330M;ENSP00000364970:K322M	ENSP00000310572:K330M	K	+	2	0	PSMC5	59262617	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.491000	0.81471	2.308000	0.77769	0.533000	0.62120	AAG		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		30	65	30	65	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:65940437A>G	ENST00000321892.4	+	22	7088	c.7027A>G	c.(7027-7029)Aca>Gca	p.T2343A	BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000577770.1_3'UTR			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2343	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGGCAACAACAGCCACCAC	0.537																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7027-7029)Aca>Gca		bromodomain PHD finger transcription factor							89.0	75.0	80.0					17																	65940437		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65940437A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7027A>G	17.37:g.65940437A>G	ENSP00000315454:p.Thr2343Ala					BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A	p.T2343A			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		22	7088	+	all_cancers(12;6e-11)		2343			Thr-rich.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7027A>G		.	.	.	.	.	.	.	.	.	.	A	6.945	0.544113	0.13312	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60040	0.22;0.28;0.26	5.7	-0.267	0.12938	.	.	.	.	.	T	0.22244	0.0536	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.23868	-1.0176	9	0.02654	T	1	-6.7968	1.7031	0.02876	0.2794:0.1662:0.3926:0.1617	.	21;2217;2343	B4DJV8;Q12830-2;Q12830-4	.;.;.	A	2217;2343;2343	ENSP00000307208:T2217A;ENSP00000334351:T2343A;ENSP00000315454:T2343A	ENSP00000307208:T2217A	T	+	1	0	BPTF	63370899	0.222000	0.23652	0.644000	0.29465	0.467000	0.32768	0.664000	0.25068	-0.112000	0.11979	-0.250000	0.11733	ACA		0.537	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		31	40	31	40	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:2892339G>C	ENST00000254528.3	+	4	2373	c.2214G>C	c.(2212-2214)tgG>tgC	p.W738C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	738					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCAGCCTGTGGAACTGTGTCA	0.507																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2212-2214)tgG>tgC		elastin microfibril interfacer 2							62.0	59.0	60.0					18																	2892339		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892339G>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2214G>C	18.37:g.2892339G>C	ENSP00000254528:p.Trp738Cys						p.W738C	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2373	+			738					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2214G>C	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644128	0.47258	.	.	ENSG00000132205	ENST00000254528	T	0.32988	1.43	5.48	5.48	0.80851	.	0.168676	0.43416	D	0.000565	T	0.58352	0.2116	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57602	-0.7783	10	0.46703	T	0.11	-20.9418	19.3424	0.94349	0.0:0.0:1.0:0.0	.	738	Q9BXX0	EMIL2_HUMAN	C	738	ENSP00000254528:W738C	ENSP00000254528:W738C	W	+	3	0	EMILIN2	2882339	1.000000	0.71417	0.977000	0.42913	0.070000	0.16714	9.199000	0.95003	2.563000	0.86464	0.563000	0.77884	TGG		0.507	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		11	13	11	13	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12699203	12699203	+	Splice_Site	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:12699203C>A	ENST00000262127.2	-	4	521		c.e4-1		CEP76_ENST00000586887.1_Intron|CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATATTAGCTGTAAAGTGT	0.363																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e4-1		centrosomal protein 76kDa							64.0	65.0	65.0					18																	12699203		2203	4300	6503	SO:0001630	splice_region_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699203C>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.296-1G>T	18.37:g.12699203C>A						PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_Intron		NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			4	521	-								B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Splice_Site	SNP	ENST00000262127.2	37		CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064257	0.76187	.	.	ENSG00000101624	ENST00000262127	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP76	12689203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	2.770000	0.95276	0.655000	0.94253	.		0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	Intron	16	18	16	18	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8670020	8670020	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:8670020C>A	ENST00000597188.1	-	4	582	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ADAMTS10_ENST00000270328.4_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	104						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(310-312)gtG>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							26.0	26.0	26.0					19																	8670020		2202	4296	6498	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670020C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.312G>T	19.37:g.8670020C>A						ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR	p.V104V			Q9H324	ATS10_HUMAN			3	578	-			104					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.312G>T	CCDS12206.1																																																																																				0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		5	27	5	27	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14887554	14887554	+	Silent	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:14887554G>C	ENST00000315576.3	-	2	466	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_ENST00000601345.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	5					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGACGAGAAAGACGCGGCCTC	0.652																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(13-15)gtC>gtG		egf-like module containing, mucin-like, hormone receptor-like 2							34.0	30.0	32.0					19																	14887554		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14887554G>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.15C>G	19.37:g.14887554G>C						EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V	p.V5V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN			2	466	-			5					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.15C>G	CCDS32935.1																																																																																				0.652	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	13	4	13	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16630018	16630018	+	Intron	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:16630018C>G	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N|CHERP_ENST00000546361.2_Missense_Mutation_p.K901N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGGAGTAGCTCTTGTTCCTGC	0.642																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2701-2703)aaG>aaC		calcium homeostasis endoplasmic reticulum protein							53.0	56.0	55.0					19																	16630018		2024	4174	6198	SO:0001627	intron_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16630018C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-887C>G	19.37:g.16630018C>G						CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N	p.K901N	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			17	2854	-			901					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2703G>C	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065868	0.55539	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.31247	1.5;1.5	5.21	4.11	0.48088	.	.	.	.	.	T	0.48277	0.1491	M	0.68317	2.08	0.48395	D	0.99964	D	0.71674	0.998	D	0.76071	0.987	T	0.48703	-0.9012	9	0.87932	D	0	-27.5999	6.9557	0.24570	0.0:0.8114:0.0:0.1886	.	901	Q8IWX8	CHERP_HUMAN	N	901;912	ENSP00000439856:K901N;ENSP00000198939:K912N	ENSP00000198939:K912N	K	-	3	2	CHERP	16491018	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.089000	0.30890	2.434000	0.82447	0.555000	0.69702	AAG		0.642	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		17	21	17	21	---	---	---	---
ABHD8	79575	broad.mit.edu	37	19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:17405251T>G	ENST00000247706.3	-	4	1234	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	332							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGACACGTTGAAAGCGTT	0.642																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(994-996)aAc>aCc		abhydrolase domain containing 8							163.0	128.0	140.0					19																	17405251		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405251T>G	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.995A>C	19.37:g.17405251T>G	ENSP00000247706:p.Asn332Thr					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.N332T	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1234	-			332					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.995A>C	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869124	0.72065	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.66460	-0.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.68317	2.08	0.48762	D	0.999709	B	0.33883	0.43	B	0.43360	0.417	T	0.63139	-0.6704	10	0.09590	T	0.72	-40.9137	13.1538	0.59505	0.0:0.0:0.0:1.0	.	332	Q96I13	ABHD8_HUMAN	T	332;278	ENSP00000247706:N332T	ENSP00000247706:N332T	N	-	2	0	ABHD8	17266251	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	5.935000	0.70145	1.998000	0.58463	0.533000	0.62120	AAC		0.642	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		38	85	38	85	---	---	---	---
COMP	1311	broad.mit.edu	37	19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:18897449G>C	ENST00000222271.2	-	11	1191	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	COMP_ENST00000542601.2_Missense_Mutation_p.Q350E|COMP_ENST00000425807.1_Missense_Mutation_p.Q330E	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	383					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGTCGGCCTGGTTGCGGATC	0.577																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1048-1050)Cag>Gag		cartilage oligomeric matrix protein							114.0	84.0	94.0					19																	18897449		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18897449G>C	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1147C>G	19.37:g.18897449G>C	ENSP00000222271:p.Gln383Glu					COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E	p.Q350E			P49747	COMP_HUMAN			10	1437	-			383					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1048C>G	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	1.144	-0.648543	0.03506	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98264	-4.83;-4.83;-4.83	3.35	-3.48	0.04739	.	0.965742	0.08497	U	0.937075	D	0.88009	0.6322	N	0.01228	-0.945	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84920	0.0853	10	0.02654	T	1	1.0744	5.1225	0.14867	0.0:0.2908:0.3965:0.3127	.	330;383	B4DKJ3;P49747	.;COMP_HUMAN	E	350;383;330;370	ENSP00000439156:Q350E;ENSP00000222271:Q383E;ENSP00000403792:Q330E	ENSP00000222271:Q383E	Q	-	1	0	COMP	18758449	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-6.574000	0.00061	-0.788000	0.04504	0.313000	0.20887	CAG		0.577	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		17	26	17	26	---	---	---	---
CCDC9	26093	broad.mit.edu	37	19	47773663	47773663	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:47773663G>A	ENST00000221922.6	+	9	1124		c.e9-1			NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9								poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTTCCCCCAGGTTCAAGGAT	0.592																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.e9-1		coiled-coil domain containing 9							125.0	101.0	109.0					19																	47773663		2203	4300	6503	SO:0001630	splice_region_variant	26093							g.chr19:47773663G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.903-1G>A	19.37:g.47773663G>A								NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	9	1124	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)							Splice_Site	SNP	ENST00000221922.6	37		CCDS12698.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690507	0.29962	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3163	0.54958	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC9	52465503	1.000000	0.71417	0.998000	0.56505	0.234000	0.25298	5.025000	0.64097	2.248000	0.74166	0.484000	0.47621	.		0.592	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603	Intron	8	24	8	24	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49858558	49858558	+	Intron	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:49858558A>G	ENST00000311227.2	-	5	559				TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Splice_Site|TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000601519.1_Splice_Site	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2						gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACAATCCCCAACCTGGACCAC	0.587																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.e4+1		TEA domain family member 2							77.0	69.0	72.0					19																	49858558		2203	4300	6503	SO:0001627	intron_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49858558A>G	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.468+10T>C	19.37:g.49858558A>G						TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000311227.2_Intron|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000601519.1_Splice_Site				Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	4	840	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)						B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Splice_Site	SNP	ENST00000311227.2	37		CCDS12761.1	.	.	.	.	.	.	.	.	.	.	A	6.286	0.420873	0.11928	.	.	ENSG00000074219	ENST00000377214;ENST00000539846	.	.	.	5.07	-1.54	0.08584	.	.	.	.	.	.	.	.	.	.	.	0.21579	N	0.999638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3928	0.02254	0.3939:0.2149:0.2687:0.1226	.	.	.	.	.	-1	.	.	.	-	.	.	TEAD2	54550370	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.653000	0.05360	-0.359000	0.08150	0.459000	0.35465	.		0.587	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		15	43	15	43	---	---	---	---
PRMT1	3276	broad.mit.edu	37	19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50187286C>G	ENST00000391851.4	+	5	590	c.461C>G	c.(460-462)tCc>tGc	p.S154C	PRMT1_ENST00000532489.1_Missense_Mutation_p.S126C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C|MIR5088_ENST00000581740.1_RNA	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	162	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCTACGAGTCCATGCTCAAC	0.607																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(376-378)tCc>tGc		protein arginine methyltransferase 1							197.0	134.0	155.0					19																	50187286		2203	4300	6503	SO:0001583	missense	3276					cytoplasm	protein methyltransferase activity	g.chr19:50187286C>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.461C>G	19.37:g.50187286C>G	ENSP00000375724:p.Ser154Cys					PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C	p.S126C			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	6	883	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	153					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.377C>G	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.321012|3.321012	0.60634|0.60634	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	.|T;T;T;T;T;T;T	.|0.25579	.|1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.15|4.15	3.12|3.12	0.35913|0.35913	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44350|0.44350	0.1289|0.1289	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.42735	.|0.788;0.788;0.749;0.749	.|P;P;P;B	.|0.48921	.|0.494;0.595;0.459;0.361	T|T	0.50825|0.50825	-0.8782|-0.8782	5|10	.|0.72032	.|D	.|0.01	0.907|0.907	9.608|9.608	0.39645|0.39645	0.0:0.8956:0.0:0.1044|0.0:0.8956:0.0:0.1044	.|.	.|162;126;154;148	.|Q99873;E9PKG1;G5E9B6;Q99873-2	.|ANM1_HUMAN;.;.;.	A|C	182|126;126;126;126;154;148;172;126	.|ENSP00000432349:S126C;ENSP00000433556:S126C;ENSP00000432538:S126C;ENSP00000431957:S126C;ENSP00000375724:S154C;ENSP00000406162:S172C;ENSP00000432788:S126C	.|ENSP00000375724:S154C	P|S	+|+	1|2	0|0	PRMT1|PRMT1	54879098|54879098	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.688000|0.688000	0.40055|0.40055	7.361000|7.361000	0.79497|0.79497	0.942000|0.942000	0.37525|0.37525	-0.229000|-0.229000	0.12294|0.12294	CCA|TCC		0.607	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		4	74	4	74	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628471	51628471	+	Silent	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:51628471T>G	ENST00000250360.3	+	1	307	c.240T>G	c.(238-240)gcT>gcG	p.A80A	SIGLEC9_ENST00000440804.3_Silent_p.A80A	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	80	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAACCCAGCTCGGGCAGTGT	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(238-240)gcT>gcG		sialic acid binding Ig-like lectin 9							99.0	89.0	93.0					19																	51628471		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628471T>G	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.240T>G	19.37:g.51628471T>G						SIGLEC9_ENST00000250360.3_Silent_p.A80A	p.A80A	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	307	+		all_neural(266;0.0529)	80			Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.240T>G	CCDS12825.1																																																																																				0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		28	72	28	72	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57065052	57065052	+	Splice_Site	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:57065052G>C	ENST00000301318.3	+	8	969		c.e8-1		AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTATCTTTCAGGCCAGCGATC	0.373																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.e8-1		ZFP28 zinc finger protein							57.0	53.0	55.0					19																	57065052		2203	4300	6503	SO:0001630	splice_region_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065052G>C		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.899-1G>C	19.37:g.57065052G>C						AC007228.11_ENST00000596587.1_RNA		NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	969	+		Colorectal(82;0.000256)|Ovarian(87;0.243)						A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Splice_Site	SNP	ENST00000301318.3	37		CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322469	0.41096	.	.	ENSG00000196867	ENST00000301318	.	.	.	4.82	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1705	0.48569	0.0924:0.0:0.9076:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFP28	61756864	0.406000	0.25344	0.997000	0.53966	0.863000	0.49368	1.642000	0.37207	2.493000	0.84123	0.655000	0.94253	.		0.373	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	Intron	14	35	14	35	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128064	3128064	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:3128064C>T	ENST00000380266.3	-	2	1974	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	551					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTCATATCCTTCTCTGCTA	0.448																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1651-1653)aaG>aaA		FAST kinase domains 5							51.0	56.0	55.0					20																	3128064		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128064C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1653G>A	20.37:g.3128064C>T						UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	p.K551K	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1974	-			551					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1653G>A	CCDS13048.1																																																																																				0.448	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		10	35	10	35	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:44506572A>T	ENST00000255152.2	+	2	1584	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	459							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCTTTTGGAATCTGTGGAGA	0.542																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Atc>Ttc		zinc finger, SWIM-type containing 3							38.0	39.0	39.0					20																	44506572		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506572A>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1375A>T	20.37:g.44506572A>T	ENSP00000255152:p.Ile459Phe					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	p.I459F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	1584	+		Myeloproliferative disorder(115;0.0122)	459					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1375A>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	A	0.105	-1.146833	0.01714	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23348	1.93;1.91	5.41	0.495	0.16890	.	1.019250	0.07810	N	0.957925	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	B;B	0.29716	0.201;0.255	B;B	0.26969	0.075;0.023	T	0.30650	-0.9971	10	0.10377	T	0.69	-2.2311	8.3409	0.32243	0.6415:0.0:0.3585:0.0	.	453;459	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	F	459;453	ENSP00000255152:I459F;ENSP00000406313:I453F	ENSP00000255152:I459F	I	+	1	0	ZSWIM3	43939979	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.460000	0.21924	0.150000	0.19136	0.533000	0.62120	ATC		0.542	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		14	21	14	21	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:61513601T>C	ENST00000266070.4	-	16	4032	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1236					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCCGACTGCGGGACTGT	0.592																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3706-3708)cAg>cGg		death inducer-obliterator 1							86.0	98.0	94.0					20																	61513601		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513601T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3707A>G	20.37:g.61513601T>C	ENSP00000266070:p.Gln1236Arg					DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4032	-	Breast(26;5.68e-08)		1236					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3707A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	5.065	0.197674	0.09652	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08807	3.05;3.05	5.74	-2.54	0.06307	.	0.369882	0.19338	N	0.116703	T	0.05686	0.0149	L	0.50333	1.59	0.09310	N	1	B	0.22480	0.07	B	0.14023	0.01	T	0.48456	-0.9034	10	0.06236	T	0.91	-11.2887	8.3926	0.32537	0.3042:0.0:0.4072:0.2886	.	1236	Q9BTC0	DIDO1_HUMAN	R	1236	ENSP00000266070:Q1236R;ENSP00000378752:Q1236R	ENSP00000266070:Q1236R	Q	-	2	0	DIDO1	60984046	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-0.162000	0.10012	-0.675000	0.05246	0.460000	0.39030	CAG		0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		44	110	44	110	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62384051	62384051	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:62384051C>T	ENST00000245663.4	-	4	1536	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_ENST00000395104.1_Silent_p.K462K|ZBTB46_ENST00000302995.2_Silent_p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	462					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGTGTGGCGCTTCATGTGCT	0.701																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1384-1386)aaG>aaA		zinc finger and BTB domain containing 46							51.0	38.0	43.0					20																	62384051		2203	4298	6501	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62384051C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1386G>A	20.37:g.62384051C>T						ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_Silent_p.K462K	p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			4	1536	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		462					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1386G>A	CCDS13538.1																																																																																				0.701	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		7	10	7	10	---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31710000	31710000	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:31710000C>A	ENST00000382835.2	-	0	12					NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1							intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCTAAAAATCCTTAAAGATGG	0.438																																						ENST00000382835.2																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18								keratin associated protein 27-1							50.0	50.0	50.0					21																	31710000		2203	4294	6497			643812					intermediate filament		g.chr21:31710000C>A	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577		21.37:g.31710000C>A								NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN			0	12	-									Translation_Start_Site	SNP	ENST00000382835.2	37		CCDS33532.1																																																																																				0.438	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		12	20	12	20	---	---	---	---
PCP4	5121	broad.mit.edu	37	21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:41301036G>C	ENST00000328619.5	+	3	374	c.189G>C	c.(187-189)taG>taC	p.*63Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	0					central nervous system development (GO:0007417)	cytosol (GO:0005829)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CTCAGTCCTAGTGGGAGAACC	0.468																																						ENST00000328619.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(187-189)taG>taC		Purkinje cell protein 4							71.0	68.0	69.0					21																	41301036		2203	4300	6503	SO:0001578	stop_lost	5121				central nervous system development	cytosol|nucleus		g.chr21:41301036G>C	X93349, U53709	CCDS33563.1	21q22.2	2006-12-01			ENSG00000183036	ENSG00000183036			8742	protein-coding gene	gene with protein product		601629				8931698, 8914602	Standard	NM_006198		Approved	PEP-19	uc002yyp.3	P48539	OTTHUMG00000086731	ENST00000328619.5:c.189G>C	21.37:g.41301036G>C	ENSP00000329403:p.*63Tyrext*27					PCP4_ENST00000468717.1_3'UTR	p.*63Y	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN			3	374	+		Prostate(19;2.65e-06)|all_epithelial(19;0.138)	0					A6NDJ9|Q6ICS4|Q93059	Nonstop_Mutation	SNP	ENST00000328619.5	37	c.189G>C	CCDS33563.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659725	0.29515	.	.	ENSG00000183036	ENST00000328619	.	.	.	5.39	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3573	0.66745	0.0714:0.0:0.9286:0.0	.	.	.	.	Y	63	.	.	X	+	3	2	PCP4	40222906	1.000000	0.71417	0.874000	0.34290	0.419000	0.31324	6.455000	0.73497	1.408000	0.46895	0.655000	0.94253	TAG		0.468	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	NM_006198		7	27	7	27	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:45994012T>G	ENST00000400374.3	+	1	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	126	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCTGTGTGCCCGTCTGC	0.642																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(376-378)gTg>gGg		keratin associated protein 10-4							177.0	157.0	164.0					21																	45994012		2202	4298	6500	SO:0001583	missense	386672					keratin filament		g.chr21:45994012T>G	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.377T>G	21.37:g.45994012T>G	ENSP00000383225:p.Val126Gly					TSPEAR_ENST00000323084.4_Intron	p.V126G	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	407	+			126			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.377T>G	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	0.380	-0.929137	0.02359	.	.	ENSG00000215454	ENST00000400374	T	0.01388	4.95	3.55	-5.11	0.02901	.	.	.	.	.	T	0.01870	0.0059	M	0.80982	2.52	0.09310	N	1	P	0.35411	0.5	B	0.36289	0.221	T	0.35076	-0.9803	9	0.23891	T	0.37	.	1.369	0.02207	0.1402:0.2993:0.1426:0.4179	.	126	P60372	KR104_HUMAN	G	126	ENSP00000383225:V126G	ENSP00000383225:V126G	V	+	2	0	KRTAP10-4	44818440	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.735000	0.00380	-0.723000	0.04915	0.254000	0.18369	GTG		0.642	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		34	252	34	252	---	---	---	---
MRPL40	64976	broad.mit.edu	37	22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:19423224G>T	ENST00000333130.3	+	4	1013	c.360G>T	c.(358-360)aaG>aaT	p.K120N	HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	120					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)					TTCTGAAGAAGTGGTCCTTGT	0.527																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(358-360)aaG>aaT		mitochondrial ribosomal protein L40							183.0	188.0	186.0					22																	19423224		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423224G>T	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.360G>T	22.37:g.19423224G>T	ENSP00000333401:p.Lys120Asn					MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	p.K120N	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	1013	+	Colorectal(54;0.0993)		120					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.360G>T	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578872	0.46006	.	.	ENSG00000185608	ENST00000333130	T	0.45668	0.89	5.22	-0.487	0.12060	.	0.347577	0.33023	N	0.005365	T	0.38532	0.1044	L	0.48362	1.52	0.33129	D	0.542824	P	0.39920	0.695	P	0.45794	0.493	T	0.51212	-0.8734	10	0.48119	T	0.1	-7.068	9.4371	0.38646	0.4164:0.0:0.5836:0.0	.	120	Q9NQ50	RM40_HUMAN	N	120	ENSP00000333401:K120N	ENSP00000333401:K120N	K	+	3	2	MRPL40	17803224	1.000000	0.71417	0.913000	0.36048	0.641000	0.38312	0.690000	0.25451	0.089000	0.17243	-0.251000	0.11542	AAG		0.527	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		59	114	59	114	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T	rs377423631		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:38121937C>T	ENST00000406386.3	+	7	3629	c.3374C>T	c.(3373-3375)cCa>cTa	p.P1125L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1125					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCCCCACCACGCCAG	0.637																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3373-3375)cCa>cTa		TRIO and F-actin binding protein		C	LEU/PRO	1,3957		0,1,1978	89.0	101.0	97.0		3374	5.1	1.0	22		97	0,8274		0,0,4137	no	missense	TRIOBP	NM_001039141.2	98	0,1,6115	TT,TC,CC		0.0,0.0253,0.0082	probably-damaging	1125/2366	38121937	1,12231	1979	4137	6116	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121937C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3374C>T	22.37:g.38121937C>T	ENSP00000384312:p.Pro1125Leu						p.P1125L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3629	+	Melanoma(58;0.0574)		1125					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3374C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948424	0.73787	2.53E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.48836	0.8	5.13	5.13	0.70059	.	.	.	.	.	T	0.58977	0.2160	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62011	-0.6944	9	0.87932	D	0	.	14.136	0.65289	0.0:1.0:0.0:0.0	.	1125	Q9H2D6	TARA_HUMAN	L	1125	ENSP00000384312:P1125L	ENSP00000384312:P1125L	P	+	2	0	TRIOBP	36451883	0.606000	0.26949	0.973000	0.42090	0.888000	0.51559	1.134000	0.31442	2.402000	0.81655	0.449000	0.29647	CCA		0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	138	6	138	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8553409	8553409	+	Missense_Mutation	SNP	T	T	C	rs368537227		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:8553409T>C	ENST00000262648.3	-	6	904	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	252	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGTCTTATGTCAGTCAGTTG	0.498																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(754-756)gAc>gGc		Kallmann syndrome 1 sequence							186.0	130.0	149.0					X																	8553409		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8553409T>C		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.755A>G	X.37:g.8553409T>C	ENSP00000262648:p.Asp252Gly						p.D252G	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			6	904	-			252			Fibronectin type-III 1.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.755A>G	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948712	0.34377	.	.	ENSG00000011201	ENST00000262648	T	0.49720	0.77	3.74	3.74	0.42951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108809	0.64402	D	0.000009	T	0.42539	0.1207	L	0.49455	1.56	0.58432	D	0.999998	B	0.30361	0.277	B	0.37198	0.243	T	0.16958	-1.0385	10	0.15066	T	0.55	.	11.1894	0.48677	0.0:0.0:0.0:1.0	.	252	P23352	KALM_HUMAN	G	252	ENSP00000262648:D252G	ENSP00000262648:D252G	D	-	2	0	KAL1	8513409	1.000000	0.71417	0.494000	0.27515	0.342000	0.28953	6.591000	0.74090	1.206000	0.43276	0.481000	0.45027	GAC		0.498	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		38	7	38	7	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129146576	129146576	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129146576G>C	ENST00000218147.7	+	3	306	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	37					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTGATGAGGAGTCAACGAC	0.517																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(109-111)Gag>Cag		BCL6 corepressor-like 1							168.0	152.0	157.0					X																	129146576		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146576G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.109G>C	X.37:g.129146576G>C	ENSP00000218147:p.Glu37Gln					BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q	p.E37Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN			2	153	+			37					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.109G>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277020	0.59758	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.55588	0.53;0.89;0.51;0.53	5.42	5.42	0.78866	.	0.000000	0.35772	N	0.002997	T	0.57799	0.2078	N	0.19112	0.55	0.34897	D	0.746161	D	0.69078	0.997	P	0.61397	0.888	T	0.70174	-0.4944	10	0.66056	D	0.02	-20.8722	18.2841	0.90108	0.0:0.0:1.0:0.0	.	37	Q5H9F3	BCORL_HUMAN	Q	37	ENSP00000218147:E37Q;ENSP00000307541:E37Q;ENSP00000352253:E37Q;ENSP00000437775:E37Q	ENSP00000218147:E37Q	E	+	1	0	BCORL1	128974257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.355000	0.73041	2.256000	0.74724	0.600000	0.82982	GAG		0.517	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		28	23	28	23	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147472	129147472	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129147472G>C	ENST00000218147.7	+	4	921	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000540052.1_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	242	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTCCAAGTTGCCACTTCGGT	0.632																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(724-726)Gcc>Ccc		BCL6 corepressor-like 1							153.0	137.0	143.0					X																	129147472		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147472G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.724G>C	X.37:g.129147472G>C	ENSP00000218147:p.Ala242Pro					BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P	p.A242P	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN			3	768	+			242			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.724G>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964236	0.18583	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.52754	0.67;1.05;0.65;0.67	3.33	1.48	0.22813	.	0.000000	0.35151	N	0.003415	T	0.22781	0.0550	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.18999	-1.0319	9	.	.	.	-7.014	8.6736	0.34165	0.2185:0.0:0.7815:0.0	.	242;242	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	242	ENSP00000218147:A242P;ENSP00000307541:A242P;ENSP00000352253:A242P;ENSP00000437775:A242P	.	A	+	1	0	BCORL1	128975153	0.054000	0.20591	0.818000	0.32626	0.802000	0.45316	0.620000	0.24403	0.255000	0.21593	-0.397000	0.06425	GCC		0.632	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		52	42	52	42	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134990668	134990668	+	Silent	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:134990668A>C	ENST00000370709.3	+	11	1333	c.1333A>C	c.(1333-1335)Agg>Cgg	p.R445R	SAGE1_ENST00000535938.1_Silent_p.R445R|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.R445R			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	445						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAGCAAGGATGGAAAA	0.423																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1333-1335)Agg>Cgg		sarcoma antigen 1							174.0	153.0	160.0					X																	134990668		2203	4299	6502	SO:0001819	synonymous_variant	55511							g.chrX:134990668A>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1333A>C	X.37:g.134990668A>C						SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R	p.R445R	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			12	1500	+	Acute lymphoblastic leukemia(192;0.000127)		445					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.1333A>C	CCDS14652.1																																																																																				0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		32	19	32	19	---	---	---	---
ZDHHC14	79683	broad.mit.edu	37	6	157803172	157803172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:157803172delG	ENST00000359775.5	+	1	1008	c.119delG	c.(118-120)tggfs	p.W40fs	ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	40					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGGAAATGGGAGGTGTTC	0.587																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(118-120)tggfs		zinc finger, DHHC-type containing 14							47.0	49.0	48.0					6																	157803172		2203	4296	6499	SO:0001589	frameshift_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803172delG	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.119delG	6.37:g.157803172delG	ENSP00000352821:p.Trp40fs					ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs	p.W40fs			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	1	1008	+		Breast(66;0.00586)|Ovarian(120;0.123)	40					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Frame_Shift_Del	DEL	ENST00000359775.5	37	c.119delG	CCDS5252.1																																																																																				0.587	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		7	12	7	12	---	---	---	---
SYPL1	6856	broad.mit.edu	37	7	105739618	105739619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:105739618_105739619insT	ENST00000011473.2	-	3	279_280	c.233_234insA	c.(232-234)tttfs	p.F78fs	SYPL1_ENST00000455385.2_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	78	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATGGATAACCAAAAGTAGCTGT	0.351																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(178-180)tttfs		synaptophysin-like 1																																				SO:0001589	frameshift_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105739618_105739619insT		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.233_234insA	7.37:g.105739618_105739619insT	ENSP00000011473:p.Phe78fs					SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.F78fs	p.F60fs	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			2	301_302	-			78			MARVEL.		A4D0R2|Q96AR8	Frame_Shift_Ins	INS	ENST00000011473.2	37	c.179_180insA	CCDS5736.1																																																																																				0.351	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			13	82	13	82	---	---	---	---
RBMS2	5939	broad.mit.edu	37	12	56915827	56915827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:56915827delC	ENST00000262031.5	+	1	115	c.20delC	c.(19-21)tccfs	p.S7fs	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	7					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TCCGTGACTTCCAGGCCCGGG	0.478																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(19-21)tccfs		RNA binding motif, single stranded interacting protein 2							91.0	93.0	92.0					12																	56915827		2203	4300	6503	SO:0001589	frameshift_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56915827delC	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.20delC	12.37:g.56915827delC	ENSP00000262031:p.Ser7fs					RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR	p.S7fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			1	115	+			7						Frame_Shift_Del	DEL	ENST00000262031.5	37	c.20delC	CCDS8923.1																																																																																				0.478	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		28	56	28	56	---	---	---	---
