#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
AHDC1	27245	broad.mit.edu	37	1	27874315	27874315	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:27874315C>G	ENST00000247087.5	-	5	4908	c.4312G>C	c.(4312-4314)Gct>Cct	p.A1438P	AHDC1_ENST00000374011.2_Missense_Mutation_p.A1438P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1438							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		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;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGGCTGCAGCTGCGTGGCCC	0.682																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4312-4314)Gct>Cct		AT hook, DNA binding motif, containing 1							9.0	11.0	10.0					1																	27874315		2177	4251	6428	SO:0001583	missense	27245						DNA binding	g.chr1:27874315C>G	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4312G>C	1.37:g.27874315C>G	ENSP00000247087:p.Ala1438Pro					AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P	p.A1438P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5280	-		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)	1438					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4312G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424213	0.25639	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.48522	0.81;0.81	4.97	2.98	0.34508	.	0.218410	0.38605	N	0.001631	T	0.20292	0.0488	N	0.03608	-0.345	0.20638	N	0.999878	B	0.12013	0.005	B	0.10450	0.005	T	0.05666	-1.0871	10	0.45353	T	0.12	-6.1228	4.929	0.13907	0.1501:0.6161:0.1461:0.0877	.	1438	Q5TGY3	AHDC1_HUMAN	P	1438	ENSP00000247087:A1438P;ENSP00000363123:A1438P	ENSP00000247087:A1438P	A	-	1	0	AHDC1	27746902	0.076000	0.21285	0.947000	0.38551	0.951000	0.60555	0.321000	0.19558	2.500000	0.84329	0.655000	0.94253	GCT		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			3	19	3	19	---	---	---	---
SCMH1	22955	broad.mit.edu	37	1	41512096	41512096	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:41512096T>C	ENST00000326197.7	-	11	1750	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000402904.2_Missense_Mutation_p.H484R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GTACCTGTCGTGGCTGTGGCT	0.582																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1450-1452)cAc>cGc		sex comb on midleg homolog 1 (Drosophila)							99.0	81.0	87.0					1																	41512096		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41512096T>C	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1451A>G	1.37:g.41512096T>C	ENSP00000318094:p.His484Arg					SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R	p.H484R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			12	1819	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	484						Missense_Mutation	SNP	ENST00000326197.7	37	c.1451A>G	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	T	7.222	0.597513	0.13875	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.21191	2.36;2.02;2.38;2.35;2.35;2.35;2.36;2.35;2.35;2.39;2.38	5.03	5.03	0.67393	.	0.312152	0.29737	N	0.011329	T	0.25419	0.0618	N	0.14661	0.345	0.39672	D	0.97076	B;D;B;B	0.53462	0.244;0.96;0.002;0.002	B;D;B;B	0.66979	0.074;0.948;0.004;0.002	T	0.07947	-1.0746	10	0.13470	T	0.59	.	14.0391	0.64663	0.0:0.0:0.0:1.0	.	326;494;437;484	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	R	437;326;484;464;423;423;437;423;494;423;484	ENSP00000354996:H437R;ENSP00000403974:H326R;ENSP00000386079:H484R;ENSP00000380359:H464R;ENSP00000380356:H423R;ENSP00000354656:H423R;ENSP00000361678:H437R;ENSP00000361677:H423R;ENSP00000337352:H494R;ENSP00000361676:H423R;ENSP00000318094:H484R	ENSP00000318094:H484R	H	-	2	0	SCMH1	41284683	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.061000	0.57485	2.246000	0.74042	0.533000	0.62120	CAC		0.582	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			15	22	15	22	---	---	---	---
METTL18	92342	broad.mit.edu	37	1	169762232	169762232	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:169762232C>G	ENST00000310392.4	-	2	958	c.605G>C	c.(604-606)gGt>gCt	p.G202A	C1orf112_ENST00000413811.2_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	202						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TGCAGTTATACCTAGTAAACC	0.393																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(604-606)gGt>gCt		methyltransferase like 18							125.0	127.0	126.0					1																	169762232		2203	4299	6502	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762232C>G	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.605G>C	1.37:g.169762232C>G	ENSP00000307975:p.Gly202Ala					C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A	p.G202A	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	958	-			202					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.605G>C	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075794	0.76415	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.70986	-0.53;-0.53	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	N	0.21097	0.63	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.72350	-0.4320	10	0.46703	T	0.11	-0.4269	18.9761	0.92736	0.0:1.0:0.0:0.0	.	202	O95568	MET18_HUMAN	A	202	ENSP00000307975:G202A;ENSP00000307077:G202A	ENSP00000307077:G202A	G	-	2	0	METTL18	168028856	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.400000	0.79949	2.824000	0.97209	0.655000	0.94253	GGT		0.393	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		47	59	47	59	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173556924	173556924	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:173556924T>A	ENST00000367714.3	-	5	825	c.403A>T	c.(403-405)Att>Ttt	p.I135F	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	135					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATATCCAATTATGATGCTT	0.348																																						ENST00000367714.3																			0											c.(403-405)Att>Ttt		solute carrier family 9, member C2 (putative)							96.0	97.0	97.0					1																	173556924		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173556924T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.403A>T	1.37:g.173556924T>A	ENSP00000356687:p.Ile135Phe					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	p.I135F	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			5	825	-			135					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.403A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065895	0.36470	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06849	3.25;3.25	5.59	-3.23	0.05109	Cation/H+ exchanger (1);	1.215380	0.05835	N	0.618268	T	0.03220	0.0094	L	0.44542	1.39	0.09310	N	1	P	0.34562	0.457	B	0.36989	0.238	T	0.34675	-0.9819	10	0.72032	D	0.01	-2.8421	11.1994	0.48733	0.0:0.0679:0.5431:0.3889	.	135	Q5TAH2	S9A11_HUMAN	F	135;33	ENSP00000356687:I135F;ENSP00000445437:I33F	ENSP00000356687:I135F	I	-	1	0	SLC9A11	171823547	0.339000	0.24784	0.000000	0.03702	0.003000	0.03518	0.338000	0.19858	-1.388000	0.02092	-1.795000	0.00624	ATT		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	115	8	115	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564355	176564355	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:176564355A>T	ENST00000367662.3	+	3	2779	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	539	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGGGCCTAAACCCCATTGT	0.542																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1615-1617)Aac>Tac		pappalysin 2							57.0	60.0	59.0					1																	176564355		2127	4235	6362	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564355A>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1615A>T	1.37:g.176564355A>T	ENSP00000356634:p.Asn539Tyr					PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2779	+			539			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1615A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	2.967	-0.213352	0.06140	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.48201	0.82;0.82	5.1	0.228	0.15364	.	0.697746	0.14372	N	0.323760	T	0.39572	0.1083	M	0.65975	2.015	0.09310	N	1	B;P	0.35923	0.217;0.528	B;B	0.34385	0.181;0.074	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.8341	4.2006	0.10464	0.3805:0.4354:0.0921:0.0919	.	539;539	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	539	ENSP00000356634:N539Y;ENSP00000356633:N539Y	ENSP00000356633:N539Y	N	+	1	0	PAPPA2	174830978	0.002000	0.14202	0.013000	0.15412	0.000000	0.00434	0.448000	0.21726	0.031000	0.15407	-1.158000	0.01797	AAC		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	19	14	19	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228412361	228412361	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228412361C>G	ENST00000422127.1	+	9	2899	c.2855C>G	c.(2854-2856)gCa>gGa	p.A952G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1044G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	952	Ig-like 9.			A -> V (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCAGCAGGCAGGCCAGGCG	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3130-3132)gCa>gGa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							41.0	42.0	42.0					1																	228412361		2060	4188	6248	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228412361C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2855C>G	1.37:g.228412361C>G	ENSP00000409493:p.Ala952Gly					OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.A1044G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			10	3205	+		Prostate(94;0.0405)	1044			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3131C>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.297	1.052023	0.19827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.70986	-0.53;-0.53	4.51	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098651	0.42821	D	0.000647	T	0.78679	0.4321	M	0.82923	2.615	0.80722	D	1	P;D	0.57257	0.929;0.979	P;P	0.56865	0.808;0.771	T	0.77648	-0.2509	10	0.72032	D	0.01	.	8.3454	0.32270	0.0:0.578:0.0:0.422	.	952;952	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	952	ENSP00000284548:A952G;ENSP00000409493:A952G	ENSP00000284548:A952G	A	+	2	0	OBSCN	226478984	0.099000	0.21834	0.455000	0.27031	0.126000	0.20510	0.395000	0.20850	0.197000	0.20387	-0.137000	0.14449	GCA		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	22	20	22	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229738306	229738306	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:229738306T>C	ENST00000366676.1	-	3	607	c.608A>G	c.(607-609)aAg>aGg	p.K203R	TAF5L_ENST00000366675.3_Missense_Mutation_p.K203R|TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	203					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCTGTTCTCTTGGCAGGCTG	0.527																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(607-609)aAg>aGg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							130.0	128.0	129.0					1																	229738306		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229738306T>C	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.608A>G	1.37:g.229738306T>C	ENSP00000355636:p.Lys203Arg					TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R|TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R	p.K203R	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN			4	696	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	203					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.608A>G	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.556051	0.27827	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58652	0.32;0.32;0.91	5.79	5.79	0.91817	.	0.140005	0.64402	D	0.000005	T	0.42426	0.1202	N	0.17082	0.46	0.40020	D	0.97539	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.32640	-0.9899	9	.	.	.	-25.2854	16.1244	0.81382	0.0:0.0:0.0:1.0	.	203;203	O75529-2;O75529	.;TAF5L_HUMAN	R	203	ENSP00000355636:K203R;ENSP00000258281:K203R;ENSP00000355635:K203R	.	K	-	2	0	TAF5L	227804929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.348000	0.59379	2.210000	0.71456	0.528000	0.53228	AAG		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		23	33	23	33	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54028677	54028677	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:54028677T>G	ENST00000185150.4	+	7	800	c.669T>G	c.(667-669)atT>atG	p.I223M	GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	223					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AGCATGAAATTCTTTCAGTAG	0.383																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(667-669)atT>atG		endoplasmic reticulum lectin 1							91.0	76.0	81.0					2																	54028677		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54028677T>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.669T>G	2.37:g.54028677T>G	ENSP00000185150:p.Ile223Met					ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron	p.I223M	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			7	800	+			223					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.669T>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518854	0.64634	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T;T	0.11821	2.74;2.74;2.74	5.95	1.14	0.20703	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.02431	-1.1160	9	0.59425	D	0.04	-16.1076	10.0851	0.42412	0.0:0.4964:0.0:0.5036	.	223;223;223	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	M	223	ENSP00000385629:I223M;ENSP00000185150:I223M;ENSP00000367485:I223M	ENSP00000185150:I223M	I	+	3	3	ERLEC1	53882181	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.231000	0.17872	0.181000	0.19994	0.528000	0.53228	ATT		0.383	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		25	30	25	30	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623893	100623893	+	Silent	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:100623893C>G	ENST00000409236.2	-	4	316	c.204G>C	c.(202-204)cgG>cgC	p.R68R	AFF3_ENST00000317233.4_Silent_p.R68R|AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	68					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R93R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTCTGGATCCGGTTGGAGA	0.433																																						ENST00000409236.2																			1	Substitution - coding silent(1)	p.R93R(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(202-204)cgG>cgC		AF4/FMR2 family, member 3							90.0	94.0	93.0					2																	100623893		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623893C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.204G>C	2.37:g.100623893C>G						AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R	p.R68R			P51826	AFF3_HUMAN			4	316	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.204G>C	CCDS42723.1																																																																																				0.433	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		45	79	45	79	---	---	---	---
ACTR3	10096	broad.mit.edu	37	2	114709088	114709088	+	Silent	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:114709088A>T	ENST00000263238.2	+	9	1211	c.891A>T	c.(889-891)tcA>tcT	p.S297S	ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	297					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						AACCTATCTCAGAAGTTGTAG	0.303																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(889-891)tcA>tcT		ARP3 actin-related protein 3 homolog (yeast)							82.0	79.0	80.0					2																	114709088		2202	4291	6493	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114709088A>T	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.891A>T	2.37:g.114709088A>T						ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	p.S297S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			9	1211	+			297					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.891A>T	CCDS33277.1																																																																																				0.303	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		17	20	17	20	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118864346	118864346	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:118864346C>G	ENST00000245787.4	+	4	609	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	135					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACAGTTGTCTCTCACACTGGC	0.388																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(403-405)Ctc>Gtc		insulin induced gene 2							215.0	196.0	203.0					2																	118864346		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864346C>G	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.403C>G	2.37:g.118864346C>G	ENSP00000245787:p.Leu135Val					INSIG2_ENST00000485520.1_3'UTR	p.L135V	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			4	609	+			135					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.403C>G	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905474	0.72868	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.987	T	0.71159	-0.4674	9	0.22706	T	0.39	.	19.4672	0.94948	0.0:1.0:0.0:0.0	.	27;135	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	V	135	.	ENSP00000245787:L135V	L	+	1	0	INSIG2	118580816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.833000	0.97629	0.585000	0.79938	CTC		0.388	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		17	34	17	34	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170014	207170014	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:207170014T>A	ENST00000374423.3	+	5	1148	c.762T>A	c.(760-762)caT>caA	p.H254Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCAGAAACATAAAGAATCAA	0.358																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(760-762)caT>caA		zinc finger, DBF-type containing 2							30.0	29.0	30.0					2																	207170014		1830	4087	5917	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170014T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.762T>A	2.37:g.207170014T>A	ENSP00000363545:p.His254Gln						p.H254Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1148	+			254					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.762T>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	4.486	0.090180	0.08632	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	4.71	2.31	0.28768	.	0.465919	0.16082	N	0.230457	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.29852	-0.9998	10	0.34782	T	0.22	.	3.628	0.08120	0.168:0.1659:0.0:0.6661	.	254	Q9HCK1	ZDBF2_HUMAN	Q	254	ENSP00000363545:H254Q	ENSP00000363545:H254Q	H	+	3	2	ZDBF2	206878259	0.023000	0.18921	0.412000	0.26496	0.059000	0.15707	0.255000	0.18333	0.633000	0.30452	-0.341000	0.08007	CAT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	18	6	18	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210894539	210894539	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:210894539C>G	ENST00000281772.9	-	10	2522	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	RP11-260M2.1_ENST00000608095.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H|AC007038.7_ENST00000452057.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	753						histone acetyltransferase complex (GO:0000123)											GTGATGAATTCTGGATTCTTG	0.289																																						ENST00000281772.9																			0											c.(2257-2259)caG>caC		KAT8 regulatory NSL complex subunit 1-like							133.0	133.0	133.0					2																	210894539		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210894539C>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2259G>C	2.37:g.210894539C>G	ENSP00000281772:p.Gln753His					KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H	p.Q753H	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			10	2522	-			753					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2259G>C	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375933	0.61735	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	4.61	0.57282	.	0.352303	0.21791	N	0.069069	T	0.55924	0.1951	L	0.46157	1.445	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.57152	0.814;0.814	T	0.56044	-0.8044	9	0.52906	T	0.07	.	7.4174	0.27053	0.0:0.687:0.2238:0.0892	.	711;753	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	753;711	.	ENSP00000281772:Q753H	Q	-	3	2	C2orf67	210602784	0.881000	0.30235	1.000000	0.80357	0.975000	0.68041	-0.189000	0.09629	2.586000	0.87340	0.655000	0.94253	CAG		0.289	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		31	84	31	84	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219540981	219540981	+	Missense_Mutation	SNP	A	A	G	rs371599500		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:219540981A>G	ENST00000295709.3	+	6	943	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGCCCTCAACCATCAGTCC	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		20183	0.001		0.0	False		,,,				2504	0.0					ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(664-666)Acc>Gcc		serine/threonine kinase 36							70.0	65.0	67.0					2																	219540981		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219540981A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.664A>G	2.37:g.219540981A>G	ENSP00000295709:p.Thr222Ala					STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	p.T222A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	6	943	+		Renal(207;0.0915)	222			Protein kinase.			Missense_Mutation	SNP	ENST00000295709.3	37	c.664A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	7.608	0.674162	0.14841	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.67523	-0.27;-0.27;-0.1;-0.27;-0.1	5.49	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000267	T	0.47078	0.1426	N	0.25426	0.745	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.15870	0.008;0.014	T	0.24693	-1.0153	10	0.26408	T	0.33	-18.9502	4.2649	0.10759	0.6941:0.0:0.1475:0.1584	.	222;222	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	222	ENSP00000295709:T222A;ENSP00000375955:T222A;ENSP00000375954:T222A;ENSP00000394095:T222A;ENSP00000403527:T222A	ENSP00000295709:T222A	T	+	1	0	STK36	219249225	0.002000	0.14202	0.940000	0.37924	0.986000	0.74619	1.666000	0.37460	1.065000	0.40693	0.533000	0.62120	ACC		0.448	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	35	20	35	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527																																						ENST00000295550.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.e22-1		collagen, type VI, alpha 3							195.0	175.0	182.0					2																	238266526		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266526C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6472-1G>T	2.37:g.238266526C>A						COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site		NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	22	6924	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777456	0.49786	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237931265	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	6.981000	0.76166	2.571000	0.86741	0.655000	0.94253	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	92	10	92	10	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188250	10188250	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:10188250C>G	ENST00000256474.2	+	2	1233	c.393C>G	c.(391-393)aaC>aaG	p.N131K	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGGTTAACCAAACTGAAT	0.453		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		9	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - frameshift(1)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)	kidney(9)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM042502|CX073799	VHL	M|X		c.(391-393)aaC>aaG		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							207.0	191.0	197.0					3																	10188250		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188250C>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.393C>G	3.37:g.10188250C>G	ENSP00000256474:p.Asn131Lys					VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.N131K	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1233	+			131		N -> K (in VHLD; type I).|N -> T (in VHLD; type I).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.393C>G	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396944	0.83120	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.97927	1.0318	10	0.49607	T	0.09	-21.5782	16.3181	0.82935	0.0:1.0:0.0:0.0	.	131	P40337	VHL_HUMAN	K	131;49	ENSP00000256474:N131K	ENSP00000256474:N131K	N	+	3	2	VHL	10163250	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	4.188000	0.58351	2.530000	0.85305	0.563000	0.77884	AAC		0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		15	138	15	138	---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	24006646	24006646	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:24006646C>A	ENST00000312521.4	+	6	1644	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	442	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAGGCTGGGACTTTTGAGGTA	0.363																																						ENST00000312521.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						c.(1324-1326)aCt>aAt		nuclear receptor subfamily 1, group D, member 2							121.0	118.0	119.0					3																	24006646		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24006646C>A	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1325C>A	3.37:g.24006646C>A	ENSP00000310006:p.Thr442Asn					NR1D2_ENST00000492552.1_3'UTR	p.T442N	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN			6	1644	+			442					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1325C>A	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859330	0.91433	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96587	-4.06	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.044396	0.85682	D	0.000000	D	0.98466	0.9489	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98903	1.0777	10	0.72032	D	0.01	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	442	Q14995	NR1D2_HUMAN	N	442	ENSP00000310006:T442N	ENSP00000310006:T442N	T	+	2	0	NR1D2	23981650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.814000	0.96858	0.655000	0.94253	ACT		0.363	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			7	118	7	118	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32932438	32932438	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:32932438A>T	ENST00000383763.5	+	4	1805	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	581					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGGTGGTCAAGTCAGGCCGC	0.602																																						ENST00000383763.5																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1741-1743)aAg>aTg		tripartite motif containing 71, E3 ubiquitin protein ligase							68.0	71.0	70.0					3																	32932438		2153	4253	6406	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932438A>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1742A>T	3.37:g.32932438A>T	ENSP00000373272:p.Lys581Met						p.K581M	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	1805	+									Missense_Mutation	SNP	ENST00000383763.5	37	c.1742A>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.243520	0.58995	.	.	ENSG00000206557	ENST00000383763	D	0.84442	-1.85	5.71	5.71	0.89125	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.88876	0.3336	10	0.45353	T	0.12	-40.2911	14.8116	0.70000	1.0:0.0:0.0:0.0	.	581	Q2Q1W2	LIN41_HUMAN	M	581	ENSP00000373272:K581M	ENSP00000373272:K581M	K	+	2	0	TRIM71	32907442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.180000	0.69256	0.528000	0.53228	AAG		0.602	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		24	19	24	19	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38936400	38936400	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:38936400T>C	ENST00000302328.3	-	15	2657	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	820					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGTTTCCATTTCTTTCCTC	0.448																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2458-2460)aAt>aGt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						85.0	78.0	80.0					3																	38936400		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936400T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2459A>G	3.37:g.38936400T>C	ENSP00000307599:p.Asn820Ser					SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2657	-			820					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2459A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877390	0.17395	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95588	-3.75;-3.75;-3.72;-3.61	4.86	2.4	0.29515	.	1.035500	0.07535	N	0.912974	D	0.84238	0.5428	N	0.02685	-0.53	0.19575	N	0.999963	B	0.20459	0.045	B	0.14023	0.01	T	0.75001	-0.3471	10	0.06625	T	0.88	.	4.9297	0.13910	0.1354:0.1539:0.0:0.7106	.	820	Q9UI33	SCNBA_HUMAN	S	820	ENSP00000307599:N820S;ENSP00000400945:N820S;ENSP00000416757:N820S;ENSP00000408028:N820S	ENSP00000307599:N820S	N	-	2	0	SCN11A	38911404	0.012000	0.17670	0.277000	0.24703	0.850000	0.48378	1.791000	0.38744	0.411000	0.25702	0.533000	0.62120	AAT		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	46	4	46	---	---	---	---
ACKR2	1238	broad.mit.edu	37	3	42906763	42906763	+	Missense_Mutation	SNP	G	G	C	rs368719352		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:42906763G>C	ENST00000422265.1	+	3	944	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	257					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AGCCTTGGTGGTGGCCTTCTT	0.532																																						ENST00000422265.1																			0											c.(769-771)Gtg>Ctg		atypical chemokine receptor 2							158.0	140.0	146.0					3																	42906763		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906763G>C	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.769G>C	3.37:g.42906763G>C	ENSP00000416996:p.Val257Leu					CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	p.V257L	NM_001296.4	NP_001287.2					3	944	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.769G>C	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010765	0.35511	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.34072	1.38;1.38;1.38	4.49	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.336929	0.20591	N	0.089356	T	0.19087	0.0458	N	0.24115	0.695	0.80722	D	1	B	0.21606	0.058	B	0.21360	0.034	T	0.05989	-1.0852	9	.	.	.	.	4.1115	0.10062	0.259:0.0:0.5715:0.1695	.	257	O00590	CCBP2_HUMAN	L	257	ENSP00000396150:V257L;ENSP00000416996:V257L;ENSP00000273145:V257L	.	V	+	1	0	CCBP2	42881767	0.000000	0.05858	1.000000	0.80357	0.655000	0.38815	-0.286000	0.08399	1.083000	0.41159	0.563000	0.77884	GTG		0.532	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		47	70	47	70	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46244792	46244792	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:46244792C>G	ENST00000296140.3	-	2	1138	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	338					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGAGCTGACCCTCTCCAGCCT	0.587																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(1012-1014)aGg>aCg		chemokine (C-C motif) receptor 1							64.0	59.0	61.0					3																	46244792		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244792C>G		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.1013G>C	3.37:g.46244792C>G	ENSP00000296140:p.Arg338Thr					CCR3_ENST00000357422.2_Intron	p.R338T	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1138	-			338					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.1013G>C	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781538	0.70222	.	.	ENSG00000163823	ENST00000296140	T	0.65549	-0.16	5.29	5.29	0.74685	.	2.572970	0.01001	N	0.003670	D	0.83289	0.5222	M	0.73598	2.24	0.42354	D	0.992385	D	0.89917	1.0	D	0.91635	0.999	T	0.66204	-0.5982	10	0.49607	T	0.09	.	17.4705	0.87645	0.0:1.0:0.0:0.0	.	338	P32246	CCR1_HUMAN	T	338	ENSP00000296140:R338T	ENSP00000296140:R338T	R	-	2	0	CCR1	46219796	0.708000	0.27876	0.988000	0.46212	0.950000	0.60333	2.843000	0.48238	2.637000	0.89404	0.549000	0.68633	AGG		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		17	14	17	14	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52815957	52815957	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52815957G>T	ENST00000273283.2	+	7	713	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	230					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGTTCCAGGGTCATGTGCTG	0.517																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(688-690)gGt>gTt		inter-alpha-trypsin inhibitor heavy chain 1							148.0	117.0	127.0					3																	52815957		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52815957G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.688-1G>T	3.37:g.52815957G>T						ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000537050.1_5'UTR	p.G230V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	7	713	+			230					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37	c.689G>T	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093939	0.56075	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02067	4.47;4.97;4.87	5.54	5.54	0.83059	.	0.098173	0.64402	D	0.000001	T	0.07863	0.0197	M	0.67953	2.075	0.80722	D	1	P	0.49783	0.928	P	0.54100	0.742	T	0.00331	-1.1811	10	0.87932	D	0	-18.2956	13.0261	0.58817	0.0:0.1618:0.8382:0.0	.	230	P19827	ITIH1_HUMAN	V	230;230;88	ENSP00000442584:G230V;ENSP00000273283:G230V;ENSP00000443973:G88V	ENSP00000273283:G230V	G	+	2	0	ITIH1	52790997	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	3.482000	0.53186	2.754000	0.94517	0.655000	0.94253	GGT		0.517	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Missense_Mutation	4	47	4	47	---	---	---	---
OR5K2	402135	broad.mit.edu	37	3	98216556	98216556	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:98216556A>T	ENST00000427338.1	+	1	109	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGAAAAATGAGTTTATCCTC	0.383																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(31-33)gAg>gTg		olfactory receptor, family 5, subfamily K, member 2							86.0	86.0	86.0					3																	98216556		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216556A>T	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.32A>T	3.37:g.98216556A>T	ENSP00000393889:p.Glu11Val						p.E11V	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	109	+			11					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.32A>T	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663673	0.29515	.	.	ENSG00000231861	ENST00000427338	T	0.01139	5.28	2.91	1.69	0.24217	.	0.166361	0.28219	N	0.016155	T	0.02807	0.0084	M	0.83603	2.65	0.09310	N	1	P	0.48764	0.915	P	0.49597	0.616	T	0.33979	-0.9847	10	0.59425	D	0.04	-5.2285	3.1691	0.06546	0.6133:0.2517:0.135:0.0	.	11	Q8NHB8	OR5K2_HUMAN	V	11	ENSP00000393889:E11V	ENSP00000393889:E11V	E	+	2	0	OR5K2	99699246	0.000000	0.05858	0.941000	0.38009	0.422000	0.31414	0.949000	0.29109	0.484000	0.27630	0.248000	0.18094	GAG		0.383	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			39	38	39	38	---	---	---	---
C3orf56	285311	broad.mit.edu	37	3	126915864	126915864	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:126915864C>T	ENST00000398112.1	+	2	576	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	112										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCAGCTTTGACCCCCTCATAG	0.577																																						ENST00000398112.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(334-336)gaC>gaT		chromosome 3 open reading frame 56							108.0	116.0	114.0					3																	126915864		1894	4126	6020	SO:0001819	synonymous_variant	285311							g.chr3:126915864C>T	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.336C>T	3.37:g.126915864C>T							p.D112D	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	576	+								B2RNW5	Silent	SNP	ENST00000398112.1	37	c.336C>T																																																																																					0.577	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			32	155	32	155	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012739	151012739	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:151012739C>G	ENST00000260843.4	-	3	759	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	99					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCATCATGGACTATTCGAAAT	0.373																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(295-297)Gtc>Ctc		G protein-coupled receptor 87							139.0	137.0	138.0					3																	151012739		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012739C>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.295G>C	3.37:g.151012739C>G	ENSP00000260843:p.Val99Leu					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.V99L	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	759	-			99					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.295G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.337584	0.01287	.	.	ENSG00000138271	ENST00000260843	T	0.29397	1.57	5.31	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.271256	0.32041	N	0.006665	T	0.09642	0.0237	N	0.02213	-0.635	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.29882	-0.9997	10	0.09843	T	0.71	-11.8776	4.8444	0.13507	0.0:0.5737:0.1566:0.2697	.	99	Q9BY21	GPR87_HUMAN	L	99	ENSP00000260843:V99L	ENSP00000260843:V99L	V	-	1	0	GPR87	152495429	0.802000	0.28943	0.831000	0.32960	0.780000	0.44128	0.750000	0.26334	1.369000	0.46134	-0.137000	0.14449	GTC		0.373	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			9	45	9	45	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160243734	160243734	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:160243734T>C	ENST00000334256.4	-	9	1023	c.718A>G	c.(718-720)Att>Gtt	p.I240V		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	240					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCTCCTGAATGGTTTCCATT	0.303																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(718-720)Att>Gtt		karyopherin alpha 4 (importin alpha 3)							67.0	71.0	70.0					3																	160243734		2200	4298	6498	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160243734T>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.718A>G	3.37:g.160243734T>C	ENSP00000334373:p.Ile240Val						p.I240V	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		9	1023	-			240					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.718A>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	6.605	0.480012	0.12581	.	.	ENSG00000186432	ENST00000334256	T	0.69926	-0.44	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	N	0.13235	0.315	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.42899	-0.9424	10	0.02654	T	1	-6.2125	14.8215	0.70077	0.0:0.0:0.0:1.0	.	240	O00629	IMA4_HUMAN	V	240	ENSP00000334373:I240V	ENSP00000334373:I240V	I	-	1	0	KPNA4	161726428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.819000	0.86621	2.084000	0.62774	0.533000	0.62120	ATT		0.303	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		47	40	47	40	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170218900	170218900	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:170218900A>C	ENST00000231706.5	-	3	854	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	180					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGTCTCACCCAGGCCATTGAG	0.517																																						ENST00000231706.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(538-540)cTg>cGg		solute carrier family 7, member 14							68.0	63.0	65.0					3																	170218900		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170218900A>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.539T>G	3.37:g.170218900A>C	ENSP00000231706:p.Leu180Arg					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.L180R	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	854	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)							B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.539T>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163213	0.57476	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	5.26	5.26	0.73747	Amino acid permease domain (1);	0.157646	0.45606	D	0.000349	D	0.92087	0.7492	M	0.64997	1.995	0.58432	D	0.999999	D	0.71674	0.998	D	0.66196	0.942	D	0.89763	0.3948	10	0.15499	T	0.54	.	15.4595	0.75342	1.0:0.0:0.0:0.0	.	180	Q8TBB6	S7A14_HUMAN	R	180	ENSP00000231706:L180R	ENSP00000231706:L180R	L	-	2	0	SLC7A14	171701594	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.826000	0.92034	2.108000	0.64289	0.459000	0.35465	CTG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		18	32	18	32	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13604756	13604756	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:13604756C>T	ENST00000040738.5	-	10	3903	c.3768G>A	c.(3766-3768)ttG>ttA	p.L1256L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTGTTTTTCAAATTCTTCT	0.393																																						ENST00000040738.5																			0											c.(3766-3768)ttG>ttA		biorientation of chromosomes in cell division 1-like 1							81.0	77.0	78.0					4																	13604756		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604756C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3768G>A	4.37:g.13604756C>T							p.L1256L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3903	-			1256					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3768G>A	CCDS3411.2																																																																																				0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	21	14	21	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80954651	80954651	+	Nonsense_Mutation	SNP	G	G	T	rs201698217	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:80954651G>T	ENST00000307333.7	-	9	773	c.771C>A	c.(769-771)taC>taA	p.Y257*	ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000403729.2_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	257					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CATTTACAGTGTAAGTGCAGA	0.378									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(769-771)taC>taA		anthrax toxin receptor 2							101.0	97.0	99.0					4																	80954651		1903	4126	6029	SO:0001587	stop_gained	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80954651G>T	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.771C>A	4.37:g.80954651G>T	ENSP00000306185:p.Tyr257*					ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*	p.Y257*	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			9	1296	-			257					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Nonsense_Mutation	SNP	ENST00000307333.7	37	c.771C>A	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.219966	0.98712	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	.	.	.	5.71	-0.285	0.12866	.	0.342931	0.34932	N	0.003565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5158	4.4741	0.11726	0.5768:0.0:0.256:0.1671	.	.	.	.	X	257;180;257;257	.	ENSP00000295465:Y257X	Y	-	3	2	ANTXR2	81173675	0.001000	0.12720	0.008000	0.14137	0.444000	0.32077	-0.217000	0.09253	-0.011000	0.14247	0.585000	0.79938	TAC		0.378	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		16	12	16	12	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123131	81123131	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:81123131C>T	ENST00000504452.1	+	8	1354	c.515C>T	c.(514-516)gCg>gTg	p.A172V	PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V|PRDM8_ENST00000339711.4_Missense_Mutation_p.A172V			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCTATGTGGCGCATCTGCGT	0.597											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(514-516)gCg>gTg		PR domain containing 8							126.0	137.0	133.0					4																	81123131		2139	4236	6375	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123131C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.515C>T	4.37:g.81123131C>T	ENSP00000423985:p.Ala172Val		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V|PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V	p.A172V	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1746	+			172					A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.515C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006288	0.93287	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.67345	-0.26;0.31;-0.26;-0.26	5.05	4.2	0.49525	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	T	0.82174	-0.0588	10	0.72032	D	0.01	.	15.2416	0.73474	0.0:0.8587:0.1413:0.0	.	172	Q9NQV8	PRDM8_HUMAN	V	172	ENSP00000423985:A172V;ENSP00000425149:A172V;ENSP00000339764:A172V;ENSP00000406998:A172V	ENSP00000339764:A172V	A	+	2	0	PRDM8	81342155	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	7.239000	0.78182	1.336000	0.45506	0.313000	0.20887	GCG		0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			67	86	67	86	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82355073	82355073	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:82355073C>G	ENST00000264400.2	-	12	1396	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.W414C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	415	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCACTTGTTTCCATGTCATAA	0.378																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1240-1242)tgG>tgC		RasGEF domain family, member 1B							212.0	191.0	198.0					4																	82355073		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355073C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1245G>C	4.37:g.82355073C>G	ENSP00000264400:p.Trp415Cys					RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C	p.W414C			Q0VAM2	RGF1B_HUMAN			12	1463	-			415			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1242G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764149	0.69878	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.28069	1.63;1.63;1.63	5.05	5.05	0.67936	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	P;P;P	0.47962	0.903;0.903;0.556	P;P;B	0.52881	0.712;0.712;0.321	T	0.20371	-1.0277	10	0.51188	T	0.08	.	18.1775	0.89766	0.0:1.0:0.0:0.0	.	373;414;415	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	414;415;373	ENSP00000425393:W414C;ENSP00000264400:W415C;ENSP00000338437:W373C	ENSP00000264400:W415C	W	-	3	0	RASGEF1B	82574097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.640000	0.89533	0.585000	0.79938	TGG		0.378	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		11	202	11	202	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90816530	90816530	+	Silent	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:90816530T>C	ENST00000394980.1	+	2	727	c.408T>C	c.(406-408)aaT>aaC	p.N136N	MMRN1_ENST00000394981.1_Silent_p.N102N|MMRN1_ENST00000264790.2_Silent_p.N136N			Q13201	MMRN1_HUMAN	multimerin 1	136					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCTTTCCAATTCTACACTGA	0.458																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(406-408)aaT>aaC		multimerin 1							112.0	109.0	110.0					4																	90816530		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816530T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.408T>C	4.37:g.90816530T>C						MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N	p.N136N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	727	+		Hepatocellular(203;0.114)	136					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.408T>C	CCDS3635.1																																																																																				0.458	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		47	62	47	62	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997694	115997694	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:115997694C>T	ENST00000264363.2	-	2	1177	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	167	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCTCATTGGCTTTATGAAAA	0.353																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(499-501)Gcc>Acc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							69.0	72.0	71.0					4																	115997694		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997694C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.499G>A	4.37:g.115997694C>T	ENSP00000264363:p.Ala167Thr						p.A167T	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1177	-		Ovarian(17;0.156)	167			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.499G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439589	0.43326	.	.	ENSG00000138653	ENST00000264363	T	0.37915	1.17	5.25	5.25	0.73442	.	0.052097	0.85682	D	0.000000	T	0.37679	0.1012	L	0.52206	1.635	0.58432	D	0.999997	B	0.15141	0.012	B	0.24006	0.05	T	0.12372	-1.0550	10	0.27082	T	0.32	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	167	Q9H3R1	NDST4_HUMAN	T	167	ENSP00000264363:A167T	ENSP00000264363:A167T	A	-	1	0	NDST4	116217143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.923000	0.56469	2.437000	0.82529	0.591000	0.81541	GCC		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		30	32	30	32	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164272284	164272284	+	Silent	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:164272284A>C	ENST00000515560.1	+	4	2381	c.859A>C	c.(859-861)Aga>Cga	p.R287R	NPY5R_ENST00000338566.3_Silent_p.R287R|NPY5R_ENST00000506953.1_Silent_p.R287R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	287					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAACACAGAAGAAGATATAG	0.413																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(859-861)Aga>Cga		neuropeptide Y receptor Y5							92.0	93.0	93.0					4																	164272284		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272284A>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.859A>C	4.37:g.164272284A>C						NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R	p.R287R			Q15761	NPY5R_HUMAN			4	2381	+	all_hematologic(180;0.166)	Prostate(90;0.109)	287					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.859A>C	CCDS3804.1																																																																																				0.413	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		44	43	44	43	---	---	---	---
TRIP13	9319	broad.mit.edu	37	5	914586	914586	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:914586A>G	ENST00000166345.3	+	11	1383	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	343					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAGTGTCAGATCATATACCC	0.512																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(1027-1029)Atc>Gtc		thyroid hormone receptor interactor 13							154.0	157.0	156.0					5																	914586		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:914586A>G	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.1027A>G	5.37:g.914586A>G	ENSP00000166345:p.Ile343Val						p.I343V	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		11	1383	+			343					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.1027A>G	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481948	0.44147	.	.	ENSG00000071539	ENST00000166345	D	0.95171	-3.63	5.8	4.62	0.57501	.	0.196102	0.50627	D	0.000102	D	0.89114	0.6623	N	0.25201	0.72	0.58432	D	0.999998	B	0.22909	0.077	B	0.19666	0.026	D	0.84119	0.0405	10	0.34782	T	0.22	-27.7761	12.7301	0.57193	0.8623:0.1377:0.0:0.0	.	343	Q15645	PCH2_HUMAN	V	343	ENSP00000166345:I343V	ENSP00000166345:I343V	I	+	1	0	TRIP13	967586	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.284000	0.58983	1.002000	0.39104	0.533000	0.62120	ATC		0.512	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		7	232	7	232	---	---	---	---
ARSB	411	broad.mit.edu	37	5	78251233	78251233	+	Missense_Mutation	SNP	C	C	G	rs575119903	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:78251233C>G	ENST00000264914.4	-	4	1319	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ARSB_ENST00000565165.1_Missense_Mutation_p.K261N|ARSB_ENST00000396151.3_Missense_Mutation_p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	261					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GATGCCTGTTCTTGTCTTGGA	0.478																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(781-783)aaG>aaC		arylsulfatase B							164.0	147.0	153.0					5																	78251233		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78251233C>G	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.783G>C	5.37:g.78251233C>G	ENSP00000264914:p.Lys261Asn					ARSB_ENST00000396151.3_Missense_Mutation_p.K261N|ARSB_ENST00000565165.1_Missense_Mutation_p.K261N	p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	4	1319	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	261					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.783G>C	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.024958	0.19433	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98567	-5.0;-5.0	5.55	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.538750	0.22223	N	0.062929	D	0.94905	0.8353	L	0.49699	1.58	0.35475	D	0.797652	B;B	0.32781	0.384;0.002	B;B	0.29353	0.101;0.009	D	0.93137	0.6538	10	0.19590	T	0.45	.	5.5396	0.17031	0.0:0.5948:0.1526:0.2525	.	261;261	Q8N322;P15848	.;ARSB_HUMAN	N	261	ENSP00000264914:K261N;ENSP00000379455:K261N	ENSP00000264914:K261N	K	-	3	2	ARSB	78286989	0.761000	0.28439	0.999000	0.59377	0.997000	0.91878	0.873000	0.28052	1.346000	0.45694	0.591000	0.81541	AAG		0.478	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		14	3	14	3	---	---	---	---
APC	324	broad.mit.edu	37	5	112175856	112175856	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:112175856T>G	ENST00000457016.1	+	16	4945	c.4565T>G	c.(4564-4566)tTa>tGa	p.L1522*	APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1522	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATGTGGAATTAAGAATAATG	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		4	Deletion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)	thyroid(1)|large_intestine(1)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4564-4566)tTa>tGa		adenomatous polyposis coli							76.0	78.0	78.0					5																	112175856		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175856T>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4565T>G	5.37:g.112175856T>G	ENSP00000413133:p.Leu1522*	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*	p.L1522*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4945	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1522			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4565T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	42	9.794623	0.99266	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	6.16	0.99307	.	0.081240	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2285	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	1522	.	.	L	+	2	0	APC	112203755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TTA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		30	34	30	34	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579581	140579581	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:140579581C>G	ENST00000354757.3	+	1	234	c.234C>G	c.(232-234)gaC>gaG	p.D78E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTGGACATAAACACTG	0.512																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(232-234)gaC>gaG									108.0	119.0	115.0					5																	140579581		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579581C>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.234C>G	5.37:g.140579581C>G	ENSP00000346802:p.Asp78Glu					PCDHB11_ENST00000536699.1_Intron	p.D78E	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	234	+			78			Cadherin 1.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.234C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802591	0.31869	.	.	ENSG00000197479	ENST00000354757	T	0.44881	0.91	2.8	-0.409	0.12378	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.56280	1.765	0.27524	N	0.9513	B	0.21147	0.052	B	0.26693	0.072	T	0.37197	-0.9716	9	0.54805	T	0.06	.	4.5867	0.12285	0.0:0.251:0.3294:0.4196	.	78	Q9Y5F2	PCDBB_HUMAN	E	78	ENSP00000346802:D78E	ENSP00000346802:D78E	D	+	3	2	PCDHB11	140559765	0.000000	0.05858	0.014000	0.15608	0.305000	0.27757	-6.119000	0.00080	-0.256000	0.09473	0.467000	0.42956	GAC		0.512	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		38	33	38	33	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168175430	168175430	+	Missense_Mutation	SNP	T	T	A	rs34681650		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:168175430T>A	ENST00000519560.1	-	20	2566	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V|SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	716	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGCTACTCTCCTCGTTGCC	0.642																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2146-2148)gAg>gTg		slit homolog 3 (Drosophila)							36.0	36.0	36.0					5																	168175430		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175430T>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2147A>T	5.37:g.168175430T>A	ENSP00000430333:p.Glu716Val					SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V	p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2566	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	716			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2147A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	t	18.64	3.667951	0.67814	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76839	-1.05;-1.04;-1.04	5.3	5.3	0.74995	.	0.156184	0.56097	D	0.000024	T	0.79592	0.4472	M	0.73598	2.24	0.58432	D	0.999999	B	0.30439	0.279	B	0.34242	0.178	T	0.80439	-0.1382	10	0.66056	D	0.02	.	15.2939	0.73888	0.0:0.0:0.0:1.0	.	716	O75094	SLIT3_HUMAN	V	716	ENSP00000430333:E716V;ENSP00000332164:E716V;ENSP00000384890:E716V	ENSP00000332164:E716V	E	-	2	0	SLIT3	168108008	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	7.695000	0.84257	2.010000	0.58986	0.449000	0.29647	GAG		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	39	9	39	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:24601303G>T	ENST00000378214.3	-	2	553	c.29C>A	c.(28-30)tCa>tAa	p.S10*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000430948.2_Intron	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532																																						ENST00000378214.3																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(28-30)tCa>tAa		KIAA0319							111.0	110.0	110.0					6																	24601303		2203	4300	6503	SO:0001587	stop_gained	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24601303G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.29C>A	6.37:g.24601303G>T	ENSP00000367459:p.Ser10*					KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR	p.S10*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN			2	553	-			10					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.29C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217295	0.95104	.	.	ENSG00000137261	ENST00000537886;ENST00000378214;ENST00000543707	.	.	.	4.33	1.52	0.23074	.	2.240490	0.02674	N	0.108889	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0027	6.3829	0.21544	0.323:0.0:0.677:0.0	.	.	.	.	X	10	.	ENSP00000367459:S10X	S	-	2	0	KIAA0319	24709282	0.006000	0.16342	0.002000	0.10522	0.462000	0.32619	1.187000	0.32090	0.460000	0.27045	0.563000	0.77884	TCA		0.532	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		5	88	5	88	---	---	---	---
DST	667	broad.mit.edu	37	6	56467779	56467779	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:56467779G>C	ENST00000361203.3	-	39	10582	c.10575C>G	c.(10573-10575)ttC>ttG	p.F3525L	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.F3525L|DST_ENST00000446842.2_Missense_Mutation_p.F3199L|DST_ENST00000370769.4_Missense_Mutation_p.F3525L|DST_ENST00000370754.5_Missense_Mutation_p.F3703L			Q03001	DYST_HUMAN	dystonin	3525					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCAATCTGAGAATGACTTAA	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(11107-11109)ttC>ttG		dystonin							45.0	48.0	47.0					6																	56467779		876	1991	2867	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56467779G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10575C>G	6.37:g.56467779G>C	ENSP00000354508:p.Phe3525Leu					DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.F3525L|DST_ENST00000312431.6_Missense_Mutation_p.F3525L|DST_ENST00000370769.4_Missense_Mutation_p.F3525L|DST_ENST00000446842.2_Missense_Mutation_p.F3199L|DST_ENST00000370788.2_Intron	p.F3703L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	11108	-	Lung NSC(77;0.103)		3525					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.11109C>G		.	.	.	.	.	.	.	.	.	.	G	11.68	1.712237	0.30322	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.75938	0.43;0.45;1.39;-0.98;0.37	5.92	3.92	0.45320	.	0.113265	0.39407	N	0.001371	T	0.19644	0.0472	.	.	.	0.28112	N	0.930969	.	.	.	.	.	.	T	0.16482	-1.0401	6	0.02654	T	1	.	2.7968	0.05403	0.4493:0.245:0.3057:0.0	.	.	.	.	L	3703;3525;3199;3525;3525	ENSP00000359790:F3703L;ENSP00000359805:F3525L;ENSP00000393645:F3199L;ENSP00000307959:F3525L;ENSP00000354508:F3525L	ENSP00000307959:F3525L	F	-	3	2	DST	56575738	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	1.673000	0.37534	0.742000	0.32697	0.585000	0.79938	TTC		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	48	3	48	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349172	69349172	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:69349172T>C	ENST00000370598.1	+	3	1426	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	202					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCAGCATTTGGGAGAGTGG	0.473																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(604-606)tTg>tCg		brain-specific angiogenesis inhibitor 3							65.0	64.0	64.0					6																	69349172		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349172T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.605T>C	6.37:g.69349172T>C	ENSP00000359630:p.Leu202Ser						p.L202S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN			3	1426	+		all_lung(197;0.212)	202					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.605T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208866	0.79240	.	.	ENSG00000135298	ENST00000370598	T	0.20598	2.06	5.12	5.12	0.69794	.	0.000000	0.53938	D	0.000048	T	0.21427	0.0516	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.03750	-1.1007	10	0.15066	T	0.55	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	202	O60242	BAI3_HUMAN	S	202	ENSP00000359630:L202S	ENSP00000359630:L202S	L	+	2	0	BAI3	69405893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.064000	0.61679	0.533000	0.62120	TTG		0.473	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			25	38	25	38	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43495935	43495935	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:43495935A>T	ENST00000395891.2	+	13	3145	c.2540A>T	c.(2539-2541)tAt>tTt	p.Y847F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	847	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGGTCTTTTATGTGGACCAC	0.537																																						ENST00000395891.2																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2539-2541)tAt>tTt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							80.0	77.0	78.0					7																	43495935		1924	4134	6058	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43495935A>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2540A>T	7.37:g.43495935A>T	ENSP00000379228:p.Tyr847Phe					HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	p.Y847F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			13	3145	+						WW 1.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2540A>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	32	5.129901	0.94473	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.94897	-3.55;-3.55	6.06	6.06	0.98353	WW/Rsp5/WWP (6);	0.071453	0.64402	D	0.000001	D	0.95456	0.8524	L	0.35593	1.075	0.80722	D	1	D;P	0.76494	0.999;0.924	D;P	0.83275	0.996;0.874	D	0.95609	0.8670	10	0.49607	T	0.09	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	813;847	B4DH42;Q76N89	.;HECW1_HUMAN	F	847;813;847	ENSP00000379228:Y847F;ENSP00000407774:Y813F	ENSP00000265522:Y847F	Y	+	2	0	HECW1	43462460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	TAT		0.537	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		26	30	26	30	---	---	---	---
TSC22D4	81628	broad.mit.edu	37	7	100075364	100075364	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100075364G>C	ENST00000300181.2	-	2	1052	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	100					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTCCAGGTCTCGCTCA	0.662																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(298-300)Ctg>Gtg		TSC22 domain family, member 4							13.0	15.0	14.0					7																	100075364		2169	4219	6388	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075364G>C	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.298C>G	7.37:g.100075364G>C	ENSP00000300181:p.Leu100Val					TSC22D4_ENST00000393991.1_Intron	p.L100V	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			2	1052	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		100					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.298C>G	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477384	0.63849	.	.	ENSG00000166925	ENST00000300181	.	.	.	5.39	3.56	0.40772	.	0.210120	0.23866	N	0.043785	T	0.52468	0.1736	L	0.28274	0.84	0.80722	D	1	B;D	0.58620	0.22;0.983	B;D	0.63381	0.111;0.914	T	0.46911	-0.9157	8	.	.	.	-10.8244	8.7232	0.34454	0.182:0.0:0.818:0.0	.	100;100	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	V	100	.	.	L	-	1	2	TSC22D4	99913300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.654000	0.24918	1.280000	0.44463	0.449000	0.29647	CTG		0.662	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		4	4	4	4	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679631	100679631	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100679631G>C	ENST00000306151.4	+	3	4998	c.4934G>C	c.(4933-4935)aGt>aCt	p.S1645T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTCCTGAGGCT	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4933-4935)aGt>aCt		mucin 17, cell surface associated							236.0	246.0	243.0					7																	100679631		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679631G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4934G>C	7.37:g.100679631G>C	ENSP00000302716:p.Ser1645Thr						p.S1645T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4998	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1645			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4934G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.447	-0.895772	0.02472	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00815	0.0027	N	0.01576	-0.805	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.46247	-0.9205	9	0.07644	T	0.81	.	6.4998	0.22162	0.0:0.4172:0.5828:0.0	.	1645	Q685J3	MUC17_HUMAN	T	1645	ENSP00000302716:S1645T	ENSP00000302716:S1645T	S	+	2	0	MUC17	100466351	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.769000	0.01792	-0.958000	0.03622	0.134000	0.15878	AGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		116	102	116	102	---	---	---	---
MET	4233	broad.mit.edu	37	7	116409761	116409761	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:116409761T>G	ENST00000318493.6	+	12	2887	c.2700T>G	c.(2698-2700)tgT>tgG	p.C900W	MET_ENST00000397752.3_Missense_Mutation_p.C882W			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATAAGAGCTGTGAGAATATAC	0.378			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(2644-2646)tgT>tgG		met proto-oncogene							117.0	114.0	115.0					7																	116409761		1824	4093	5917	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116409761T>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2700T>G	7.37:g.116409761T>G	ENSP00000317272:p.Cys900Trp					MET_ENST00000318493.6_Missense_Mutation_p.C900W	p.C882W	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		12	2846	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	882					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2646T>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.540571	0.65085	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097;ENST00000454623	D;D	0.85258	-1.76;-1.96	5.59	1.86	0.25419	Cell surface receptor IPT/TIG (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.89664	0.3879	10	0.87932	D	0	.	9.3407	0.38079	0.0:0.2071:0.0:0.7929	.	900;882	P08581-2;P08581	.;MET_HUMAN	W	882;900;162;14	ENSP00000380860:C882W;ENSP00000317272:C900W	ENSP00000317272:C900W	C	+	3	2	MET	116196997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.917000	0.28665	0.463000	0.27118	0.460000	0.39030	TGT		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			29	20	29	20	---	---	---	---
FAM71F2	346653	broad.mit.edu	37	7	128312528	128312529	+	Missense_Mutation	DNP	TT	TT	GC			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312528_128312529TT>GC	ENST00000480462.1	+	1	183_184	c.77_78TT>GC	c.(76-78)cTT>cGC	p.L26R	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GAAAATGGCCTTCTTTGTCAAC	0.5											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(76-78)cTt>cGt|c.(76-78)ctT>ctC		family with sequence similarity 71, member F2																																				SO:0001583	missense	346653							g.chr7:128312528T>G|g.chr7:128312529T>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	Exception_encountered	7.37:g.128312528_128312529delinsGC	ENSP00000420140:p.Leu26Arg		OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L	p.L26R|p.L26L			Q6NXP2	F71F2_HUMAN			1	183|184	+			26					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation|Silent	SNP	ENST00000480462.1	37	c.77T>G|c.78T>C	CCDS47701.1																																																																																				0.500	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			5	6|7	5	6	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137308251	137308251	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:137308251C>A	ENST00000288490.5	-	7	854	c.854G>T	c.(853-855)aGc>aTc	p.S285I	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.S285I|DGKI_ENST00000446122.1_Missense_Mutation_p.S285I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	285					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAGGAACAGCTGATAGCCAC	0.423																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(853-855)aGc>aTc		diacylglycerol kinase, iota							197.0	186.0	190.0					7																	137308251		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137308251C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.854G>T	7.37:g.137308251C>A	ENSP00000288490:p.Ser285Ile					DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I	p.S285I			O75912	DGKI_HUMAN			7	1083	-			285					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.854G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185414	0.94885	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.93189	-3.18;-3.18	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	10	0.66056	D	0.02	.	19.9596	0.97236	0.0:1.0:0.0:0.0	.	285	O75912	DGKI_HUMAN	I	233;285;285;285	ENSP00000288490:S285I;ENSP00000399131:S285I	ENSP00000288490:S285I	S	-	2	0	DGKI	136958791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	AGC		0.423	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		73	99	73	99	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142583149	142583149	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:142583149A>C	ENST00000359396.3	-	1	358	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	38					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCTGCAGCAGGTTCTGCTC	0.607																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(112-114)cTg>cGg		transient receptor potential cation channel, subfamily V, member 6							109.0	110.0	110.0					7																	142583149		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142583149A>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.113T>G	7.37:g.142583149A>C	ENSP00000352358:p.Leu38Arg					RP11-114L10.2_ENST00000438839.1_RNA	p.L38R	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN			1	358	-	Melanoma(164;0.059)		38					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.113T>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007777	0.35415	.	.	ENSG00000165125	ENST00000359396	T	0.56444	0.46	3.69	3.69	0.42338	.	0.423271	0.21368	N	0.075688	T	0.57431	0.2053	L	0.55481	1.735	0.42626	D	0.99336	D	0.53462	0.96	P	0.55871	0.786	T	0.55418	-0.8144	10	0.34782	T	0.22	-10.6897	8.9646	0.35867	1.0:0.0:0.0:0.0	.	38	Q9H1D0	TRPV6_HUMAN	R	38	ENSP00000352358:L38R	ENSP00000352358:L38R	L	-	2	0	TRPV6	142293271	1.000000	0.71417	0.990000	0.47175	0.074000	0.17049	4.225000	0.58600	1.697000	0.51169	0.317000	0.21355	CTG		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		30	38	30	38	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41559078	41559078	+	Silent	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:41559078C>A	ENST00000347528.4	-	22	2534	c.2451G>T	c.(2449-2451)tcG>tcT	p.S817S	ANK1_ENST00000396945.1_Silent_p.S817S|ANK1_ENST00000396942.1_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000379758.2_Silent_p.S817S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	817	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTCATCTTCCGAGACATCCA	0.517											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2449-2451)tcG>tcT		ankyrin 1, erythrocytic							117.0	106.0	110.0					8																	41559078		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559078C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2451G>T	8.37:g.41559078C>A			OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S	p.S817S			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2534	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	817			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2451G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.97	-3.93	0.04143	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2854	0.21031	0.1424:0.4673:0.3027:0.0877	.	.	.	.	X	131	.	.	G	-	1	0	ANK1	41678235	0.004000	0.15560	0.975000	0.42487	0.883000	0.51084	-0.933000	0.03959	-0.675000	0.05246	-0.262000	0.10625	GGA		0.517	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		27	2	27	2	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113960064	113960064	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:113960064T>A	ENST00000297405.5	-	9	1707	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTCCTGGATCTGGGCATAA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1462-1464)gAt>gTt		CUB and Sushi multiple domains 3							91.0	92.0	92.0					8																	113960064		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960064T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1463A>T	8.37:g.113960064T>A	ENSP00000297405:p.Asp488Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V	p.D488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			9	1707	-			488			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1463A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234859	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77267	0.4105	M	0.70842	2.15	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.76942	-0.2772	10	0.37606	T	0.19	.	15.1689	0.72854	0.0:0.0:0.0:1.0	.	384;488;448	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	448;488;384;488	ENSP00000345799:D448V;ENSP00000297405:D488V;ENSP00000412263:D384V;ENSP00000343124:D488V	ENSP00000297405:D488V	D	-	2	0	CSMD3	114029240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.324000	0.79115	2.052000	0.61016	0.454000	0.30748	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	81	32	81	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126049568	126049568	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:126049568A>T	ENST00000318410.7	-	26	3441	c.3092T>A	c.(3091-3093)aTa>aAa	p.I1031K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTTGTTGTTATGTATATCTG	0.328																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(3091-3093)aTa>aAa		KIAA0196							107.0	113.0	111.0					8																	126049568		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126049568A>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.3092T>A	8.37:g.126049568A>T	ENSP00000318016:p.Ile1031Lys					KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	p.I1031K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3441	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1031					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3092T>A	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.011072|4.011072	0.75046|0.75046	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86694|.	-2.16;-2.16|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74635|.	0.3742|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.968;0.991|.	P;D|.	0.75484|.	0.789;0.986|.	T|.	0.74016|.	-0.3800|.	10|.	0.87932|.	D|.	0|.	-24.4094|-24.4094	16.5763|16.5763	0.84648|0.84648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	883;1031|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	K|K	1031;883|648	ENSP00000318016:I1031K;ENSP00000429676:I883K|.	ENSP00000318016:I1031K|.	I|X	-|-	2|1	0|0	KIAA0196|KIAA0196	126118750|126118750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.785000|8.785000	0.91822|0.91822	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	ATA|TAA		0.328	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		64	125	64	125	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35092294	35092294	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:35092294C>G	ENST00000378617.3	-	7	1984	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	530					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCAGCCAGCCCAGGCTTTCC	0.562																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1588-1590)tgG>tgC		phosphatidylinositol glycan anchor biosynthesis, class O							40.0	44.0	42.0					9																	35092294		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092294C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1590G>C	9.37:g.35092294C>G	ENSP00000367880:p.Trp530Cys					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C	p.W530C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1984	-			530					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1590G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860673	0.17178	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56275	0.47;0.47	5.55	4.62	0.57501	.	0.369227	0.32836	N	0.005600	T	0.47930	0.1472	L	0.56769	1.78	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	-20.8541	12.3953	0.55380	0.1313:0.7421:0.1266:0.0	.	530	Q8TEQ8	PIGO_HUMAN	C	530	ENSP00000367880:W530C;ENSP00000339382:W530C	ENSP00000339382:W530C	W	-	3	0	PIGO	35082294	0.012000	0.17670	0.997000	0.53966	0.722000	0.41435	0.788000	0.26872	2.894000	0.99253	0.655000	0.94253	TGG		0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	15	13	15	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396792	38396792	+	Silent	SNP	G	G	A	rs199975848		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:38396792G>A	ENST00000377698.3	+	2	1200	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GGAAAGTGGGGAACCCCTTTG	0.567																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1045-1047)ggG>ggA		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						53.0	57.0	56.0					9																	38396792		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396792G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1047G>A	9.37:g.38396792G>A							p.G349G	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1200	+			349					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1047G>A	CCDS6615.1																																																																																				0.567	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			14	17	14	17	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114199253	114199253	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:114199253A>G	ENST00000338205.5	-	6	894	c.675T>C	c.(673-675)ggT>ggC	p.G225G	KIAA0368_ENST00000259335.4_Silent_p.G403G			Q5VYK3	ECM29_HUMAN	KIAA0368	231					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATGGGTTATCACCAATAACTC	0.463																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1207-1209)ggT>ggC		KIAA0368							107.0	111.0	110.0					9																	114199253		2083	4228	6311	SO:0001819	synonymous_variant	23392							g.chr9:114199253A>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.675T>C	9.37:g.114199253A>G						KIAA0368_ENST00000338205.5_Silent_p.G225G	p.G403G	NM_001080398.1	NP_001073867.1					8	1208	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.1209T>C																																																																																					0.463	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		41	117	41	117	---	---	---	---
WDR31	114987	broad.mit.edu	37	9	116079080	116079080	+	Silent	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:116079080G>C	ENST00000374193.4	-	11	1299	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L|WDR31_ENST00000374195.3_Silent_p.L226L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	351										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCATTCTGAGTAAGTGAA	0.502																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(1051-1053)ctC>ctG		WD repeat domain 31							159.0	144.0	149.0					9																	116079080		2203	4300	6503	SO:0001819	synonymous_variant	114987							g.chr9:116079080G>C	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.1053C>G	9.37:g.116079080G>C						WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L	p.L351L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			11	1299	-			351					Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.1053C>G	CCDS35110.1																																																																																				0.502	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		48	32	48	32	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140846798	140846798	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:140846798A>G	ENST00000371372.1	+	7	1184	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	347					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCTTCTTCATGCTCAACCT	0.587																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1039-1041)Atg>Gtg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						101.0	108.0	106.0					9																	140846798		2155	4268	6423	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140846798A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1039A>G	9.37:g.140846798A>G	ENSP00000360423:p.Met347Val					CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	7	1184	+	all_cancers(76;0.166)		347					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1039A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690777	0.48097	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.67	5.67	0.87782	.	0.082046	0.85682	D	0.000000	D	0.86594	0.5970	N	0.10837	0.055	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.82303	-0.0524	10	0.05721	T	0.95	.	15.6082	0.76692	1.0:0.0:0.0:0.0	.	347	B1AQK6	.	V	347	ENSP00000360423:M347V;ENSP00000277551:M347V;ENSP00000360414:M347V;ENSP00000360408:M347V;ENSP00000360406:M347V	ENSP00000277551:M347V	M	+	1	0	CACNA1B	139966619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.001000	0.70685	2.179000	0.69175	0.472000	0.43445	ATG		0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	39	3	39	---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25160954	25160954	+	Silent	SNP	G	G	A	rs201109414	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:25160954G>A	ENST00000320152.6	-	4	406	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRTFDC1_ENST00000376378.1_Silent_p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	126					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						AAAGATCATCGCCTCCGATTA	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		19130	0.002		0.0	False		,,,				2504	0.0					ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(376-378)ggC>ggT		phosphoribosyl transferase domain containing 1							287.0	245.0	259.0					10																	25160954		2203	4300	6503	SO:0001819	synonymous_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25160954G>A	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.378C>T	10.37:g.25160954G>A						PRTFDC1_ENST00000376378.1_Silent_p.G126G	p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	406	-			126					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Silent	SNP	ENST00000320152.6	37	c.378C>T	CCDS7145.1																																																																																				0.463	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		107	130	107	130	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98146717	98146717	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:98146717C>T	ENST00000357947.3	-	14	2070	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	615	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCACACATCTTCTTAT	0.587																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1843-1845)atG>atA		tolloid-like 2							134.0	114.0	121.0					10																	98146717		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146717C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1845G>A	10.37:g.98146717C>T	ENSP00000350630:p.Met615Ile						p.M615I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	2070	-		Colorectal(252;0.0846)	615			EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1845G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909351	0.33721	.	.	ENSG00000095587	ENST00000357947	D	0.96334	-3.98	4.43	-8.86	0.00795	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.754197	0.11253	N	0.583411	D	0.84669	0.5523	N	0.05383	-0.06	0.24052	N	0.996048	B	0.15719	0.014	B	0.18263	0.021	T	0.77146	-0.2695	10	0.18710	T	0.47	.	3.8406	0.08912	0.0848:0.2003:0.3845:0.3305	.	615	Q9Y6L7	TLL2_HUMAN	I	615	ENSP00000350630:M615I	ENSP00000350630:M615I	M	-	3	0	TLL2	98136707	0.372000	0.25064	0.460000	0.27093	0.493000	0.33554	-0.328000	0.07945	-1.325000	0.02269	-0.339000	0.08088	ATG		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			35	3	35	3	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115535574	115535575	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535574_115535575CT>AG	ENST00000369310.3	+	10	1542_1543	c.980_981CT>AG	c.(979-981)cCT>cAG	p.P327Q	PLEKHS1_ENST00000354462.3_Missense_Mutation_p.P77Q|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347Q|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161Q|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245Q	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	341																	TTCCTTTCTCCTCCTGATGTCA	0.436																																						ENST00000354462.3																			0											c.(229-231)cCt>cAt|c.(229-231)ccT>ccG		pleckstrin homology domain containing, family S member 1																																				SO:0001583	missense	79949							g.chr10:115535574C>A|g.chr10:115535575T>G	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	Exception_encountered	10.37:g.115535574_115535575delinsAG	ENSP00000358316:p.Pro327Gln					PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H|PLEKHS1_ENST00000369310.3_Silent_p.P327P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369309.1_Silent_p.P161P	p.P77H|p.P77P							4	388|389	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation|Silent	SNP	ENST00000369310.3	37	c.230C>A|c.231T>G	CCDS53580.1																																																																																				0.436	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		40	48|47	40	47	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57095829	57095829	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:57095829T>C	ENST00000278412.2	-	13	1819	c.1553A>G	c.(1552-1554)aAa>aGa	p.K518R	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	518	Arg/Lys-rich (basic).				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						TTTGAGCTGTTTCCGCTTCTT	0.567																																					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.(1552-1554)aAa>aGa		structure specific recognition protein 1							164.0	145.0	151.0					11																	57095829		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.chr11:57095829T>C	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.1553A>G	11.37:g.57095829T>C	ENSP00000278412:p.Lys518Arg						p.K518R	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			13	1819	-			518			Arg/Lys-rich (basic).		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1553A>G	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607788	0.66558	.	.	ENSG00000149136	ENST00000278412	D	0.93547	-3.24	4.94	4.94	0.65067	.	0.506014	0.19991	N	0.101551	D	0.95020	0.8388	L	0.58302	1.8	0.47698	D	0.999493	D	0.57571	0.98	D	0.70227	0.968	D	0.93223	0.6610	10	0.26408	T	0.33	.	12.5914	0.56445	0.0:0.0:0.0:1.0	.	518	Q08945	SSRP1_HUMAN	R	518	ENSP00000278412:K518R	ENSP00000278412:K518R	K	-	2	0	SSRP1	56852405	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.834000	0.62774	2.071000	0.62044	0.459000	0.35465	AAA		0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		5	60	5	60	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121490558	121490558	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:121490558G>A	ENST00000260197.7	+	43	5950	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	SORL1_ENST00000525532.1_Missense_Mutation_p.V885I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000527934.1_Missense_Mutation_p.V556I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1941	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGCATGTGGTTCATACGGG	0.557																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(5821-5823)Gtt>Att		sortilin-related receptor, L(DLR class) A repeats containing							226.0	197.0	206.0					11																	121490558		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121490558G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5821G>A	11.37:g.121490558G>A	ENSP00000260197:p.Val1941Ile					SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I	p.V1941I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	43	5950	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1941			Fibronectin type-III 5.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5821G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745383	0.30955	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.77	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.38904	0.1058	N	0.20986	0.625	0.45150	D	0.99816	B;B	0.32409	0.37;0.117	B;B	0.34242	0.178;0.106	T	0.28459	-1.0043	10	0.40728	T	0.16	.	10.7821	0.46384	0.1435:0.0:0.8565:0.0	.	556;1941	E9PKB0;Q92673	.;SORL_HUMAN	I	1941;885;787;851;556	ENSP00000260197:V1941I;ENSP00000434634:V885I;ENSP00000432131:V787I;ENSP00000436447:V851I;ENSP00000435405:V556I	ENSP00000260197:V1941I	V	+	1	0	SORL1	120995768	1.000000	0.71417	0.026000	0.17262	0.022000	0.10575	6.536000	0.73842	1.441000	0.47550	0.561000	0.74099	GTT		0.557	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		22	55	22	55	---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124793827	124793827	+	Silent	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:124793827T>G	ENST00000298251.4	-	3	912	c.507A>C	c.(505-507)tcA>tcC	p.S169S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTCTCATGTGAGCAGTTCA	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(505-507)tcA>tcC		hepatic and glial cell adhesion molecule							100.0	76.0	84.0					11																	124793827		2201	4299	6500	SO:0001819	synonymous_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793827T>G	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.507A>C	11.37:g.124793827T>G							p.S169S	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	912	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	169			Ig-like C2-type.			Silent	SNP	ENST00000298251.4	37	c.507A>C	CCDS8456.1																																																																																				0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		10	6	10	6	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53237983	53237983	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53237983G>A	ENST00000304620.4	-	6	1004	c.941C>T	c.(940-942)tCt>tTt	p.S314F	KRT78_ENST00000359499.4_Missense_Mutation_p.S204F	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	314	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGCTGGGCAGACACCTGAAG	0.517																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)tCt>tTt		keratin 78							153.0	138.0	143.0					12																	53237983		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53237983G>A	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.941C>T	12.37:g.53237983G>A	ENSP00000306261:p.Ser314Phe					KRT78_ENST00000304620.4_Missense_Mutation_p.S314F	p.S204F			Q8N1N4	K2C78_HUMAN			6	622	-			314			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.611C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626552	0.46840	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.89617	-2.54;-2.54	4.65	3.74	0.42951	Filament (1);	0.354131	0.16748	N	0.201167	D	0.89959	0.6866	M	0.78801	2.425	0.09310	N	1	P	0.40875	0.731	B	0.43360	0.417	D	0.84060	0.0374	10	0.87932	D	0	.	12.6165	0.56580	0.0:0.1677:0.8323:0.0	.	314	Q8N1N4	K2C78_HUMAN	F	204;314;85	ENSP00000352479:S204F;ENSP00000306261:S314F	ENSP00000306261:S314F	S	-	2	0	KRT78	51524250	0.646000	0.27295	0.006000	0.13384	0.005000	0.04900	4.657000	0.61490	1.266000	0.44231	0.558000	0.71614	TCT		0.517	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		40	32	40	32	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53676966	53676966	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53676966A>G	ENST00000257934.4	+	15	2936	c.2845A>G	c.(2845-2847)Atc>Gtc	p.I949V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	949					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCCGAAGCATCATCCTCCT	0.532																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(2845-2847)Atc>Gtc		extra spindle pole bodies homolog 1 (S. cerevisiae)							117.0	107.0	110.0					12																	53676966		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53676966A>G	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2845A>G	12.37:g.53676966A>G	ENSP00000257934:p.Ile949Val					ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			15	2936	+			949						Missense_Mutation	SNP	ENST00000257934.4	37	c.2845A>G	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604013	0.66445	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.23	4.09	0.47781	.	0.059132	0.64402	D	0.000001	T	0.32675	0.0837	M	0.72118	2.19	0.32134	N	0.586378	D;P	0.67145	0.996;0.944	D;P	0.77557	0.99;0.523	T	0.42224	-0.9464	10	0.62326	D	0.03	.	9.1335	0.36859	0.9143:0.0:0.0857:0.0	.	160;949	B4DRU1;Q14674	.;ESPL1_HUMAN	V	949;624;949	ENSP00000257934:I949V;ENSP00000449831:I949V	ENSP00000257934:I949V	I	+	1	0	ESPL1	51963233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.563000	0.45922	1.019000	0.39547	-0.256000	0.11100	ATC		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	50	7	50	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101493355	101493355	+	Splice_Site	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:101493355G>A	ENST00000392977.3	+	22	2216		c.e22-1		ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTTTGCCCAGGTTAATTCAG	0.328										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.e21-1		anoctamin 4							100.0	105.0	103.0					12																	101493355		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101493355G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2007-1G>A	12.37:g.101493355G>A		HNSCC(74;0.22)				ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site		NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			21	2262	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37			.	.	.	.	.	.	.	.	.	.	G	22.3	4.270153	0.80469	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	100017486	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.096000	0.94182	2.711000	0.92665	0.650000	0.86243	.		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Intron	15	30	15	30	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558643	129558643	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:129558643T>G	ENST00000422113.2	-	9	3403	c.3077A>C	c.(3076-3078)gAt>gCt	p.D1026A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1026					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCTTTCCCATCAATGATGAT	0.468																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3076-3078)gAt>gCt		transmembrane protein 132D							106.0	106.0	106.0					12																	129558643		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558643T>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3077A>C	12.37:g.129558643T>G	ENSP00000408581:p.Asp1026Ala					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	p.D1026A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3403	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1026					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3077A>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	6.242	0.412714	0.11812	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09073	3.02;3.83	4.33	3.14	0.36123	.	0.477638	0.20381	N	0.093451	T	0.07098	0.0180	L	0.47716	1.5	0.09310	N	1	P;B	0.42692	0.787;0.106	B;B	0.36666	0.23;0.048	T	0.28106	-1.0054	9	.	.	.	-12.8735	7.0173	0.24895	0.1474:0.0:0.1538:0.6988	.	1026;564	Q14C87;Q14C87-2	T132D_HUMAN;.	A	564;1026	ENSP00000374092:D564A;ENSP00000408581:D1026A	.	D	-	2	0	TMEM132D	128124596	0.012000	0.17670	0.005000	0.12908	0.013000	0.08279	0.638000	0.24674	0.584000	0.29591	0.460000	0.39030	GAT		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	67	16	67	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25478177	25478177	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:25478177C>G	ENST00000381884.4	-	8	2897	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTCAAAACCTGGGATCGAG	0.368																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2710-2712)caG>caC		centromere protein J							128.0	124.0	125.0					13																	25478177		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25478177C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2712G>C	13.37:g.25478177C>G	ENSP00000371308:p.Gln904His					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	8	2897	-		Lung SC(185;0.0225)|Breast(139;0.0602)	904					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2712G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487518	0.63962	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.37058	1.22;1.79	6.03	3.14	0.36123	.	0.129244	0.53938	D	0.000044	T	0.53932	0.1827	M	0.74881	2.28	0.28584	N	0.90997	D	0.89917	1.0	D	0.68192	0.956	T	0.50189	-0.8857	10	0.66056	D	0.02	.	8.1735	0.31268	0.0:0.7159:0.0:0.2841	.	904	Q9HC77	CENPJ_HUMAN	H	904	ENSP00000371308:Q904H;ENSP00000441090:Q904H	ENSP00000371308:Q904H	Q	-	3	2	CENPJ	24376177	0.670000	0.27512	0.998000	0.56505	0.999000	0.98932	0.866000	0.27954	0.745000	0.32763	0.655000	0.94253	CAG		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		28	55	28	55	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110814789	110814789	+	Splice_Site	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:110814789C>A	ENST00000375820.4	-	48	4371	c.4250G>T	c.(4249-4251)gGt>gTt	p.G1417V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1417	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTCTTGGACCTGGAAGATA	0.468																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4249-4251)gGt>gTt		collagen, type IV, alpha 1							55.0	62.0	60.0					13																	110814789		2203	4300	6503	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110814789C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4250-1G>T	13.37:g.110814789C>A						COL4A1_ENST00000467182.1_5'UTR	p.G1417V	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		48	4371	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1417			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP	ENST00000375820.4	37	c.4250G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970640	0.53614	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96738	0.9544	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	1417	P02462	CO4A1_HUMAN	V	1060;1417;1066	ENSP00000364979:G1417V	ENSP00000364973:G1060V	G	-	2	0	COL4A1	109612790	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.470000	0.80973	2.378000	0.81104	0.561000	0.74099	GGT		0.468	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Missense_Mutation	12	38	12	38	---	---	---	---
SLC22A17	51310	broad.mit.edu	37	14	23821250	23821250	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:23821250C>T	ENST00000206544.8	-	1	510	c.174G>A	c.(172-174)tcG>tcA	p.S58S	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000397260.3_De_novo_Start_OutOfFrame|SLC22A17_ENST00000354772.3_Silent_p.S58S	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	58					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.S58S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCCGCTGCACGAGGGGTCGG	0.672																																						ENST00000397260.3																			1	Substitution - coding silent(1)	p.S58S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15								solute carrier family 22, member 17							26.0	22.0	24.0					14																	23821250		2200	4299	6499	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821250C>T	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.174G>A	14.37:g.23821250C>T						SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000206544.8_Silent_p.S58S				Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	0	625	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Translation_Start_Site	SNP	ENST00000206544.8	37		CCDS9593.1																																																																																				0.672	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		3	4	3	4	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(520-522)gaG>gaC		proteasome (prosome, macropain) subunit, alpha type, 6							116.0	126.0	123.0					14																	35782199		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782199G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.522G>C	14.37:g.35782199G>C	ENSP00000261479:p.Glu174Asp					PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D	p.E174D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	642	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		174					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.522G>C	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954378	0.53293	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.57	5.57	0.84162	.	0.043981	0.85682	D	0.000000	T	0.28632	0.0709	M	0.70108	2.13	0.80722	D	1	B	0.19583	0.037	B	0.26416	0.069	T	0.04128	-1.0975	10	0.62326	D	0.03	-9.3541	14.1243	0.65210	0.0722:0.0:0.9278:0.0	.	174	P60900	PSA6_HUMAN	D	155;174;180;95;174	ENSP00000444844:E155D;ENSP00000261479:E174D;ENSP00000452603:E180D;ENSP00000452566:E95D;ENSP00000450528:E174D	ENSP00000261479:E174D	E	+	3	2	PSMA6	34851950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.125000	0.42016	2.767000	0.95098	0.655000	0.94253	GAG		0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	134	9	134	---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76091035	76091035	+	Missense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:76091035T>G	ENST00000238667.4	+	3	1248	c.892T>G	c.(892-894)Tta>Gta	p.L298V	FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	298					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCTCATACTTAGGTTCCAT	0.473																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(892-894)Tta>Gta		feline leukemia virus subgroup C cellular receptor family, member 2							122.0	118.0	119.0					14																	76091035		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091035T>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.892T>G	14.37:g.76091035T>G	ENSP00000238667:p.Leu298Val					FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR	p.L298V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1248	+			298					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.892T>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	T	4.336	0.061832	0.08339	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.60040	0.22;0.22;0.24;0.24;0.24	6.02	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.873539	0.10336	N	0.686881	T	0.31888	0.0811	N	0.11106	0.095	0.51233	D	0.999917	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.004	T	0.19877	-1.0292	10	0.13853	T	0.58	-7.5661	3.1161	0.06375	0.1715:0.2837:0.0:0.5448	.	93;298	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	298;93;46;46;46	ENSP00000238667:L298V;ENSP00000443439:L93V;ENSP00000451104:L46V;ENSP00000451603:L46V;ENSP00000452468:L46V	ENSP00000238667:L298V	L	+	1	2	AC007182.1	75160788	0.077000	0.21312	0.502000	0.27614	0.581000	0.36288	0.463000	0.21972	0.970000	0.38263	0.533000	0.62120	TTA		0.473	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		35	41	35	41	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103442111	103442111	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:103442111C>A	ENST00000361246.2	-	11	1705	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1417-1419)Ggc>Tgc		CDC42 binding protein kinase beta (DMPK-like)							130.0	141.0	137.0					14																	103442111		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442111C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1417G>T	14.37:g.103442111C>A	ENSP00000355237:p.Gly473Cys						p.G473C	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1705	-		Melanoma(154;0.155)	473						Missense_Mutation	SNP	ENST00000361246.2	37	c.1417G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411207	0.42817	.	.	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.34	0.706	0.18133	.	0.303033	0.40385	N	0.001113	T	0.63070	0.2480	L	0.57536	1.79	0.43714	D	0.996188	B	0.34241	0.444	P	0.46110	0.504	T	0.58064	-0.7702	10	0.36615	T	0.2	.	9.9133	0.41419	0.0:0.6038:0.0:0.3962	.	473	Q9Y5S2	MRCKB_HUMAN	C	473	ENSP00000355237:G473C	ENSP00000355237:G473C	G	-	1	0	CDC42BPB	102511864	0.023000	0.18921	0.001000	0.08648	0.429000	0.31625	0.562000	0.23531	0.195000	0.20347	-0.145000	0.13849	GGC		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		10	153	10	153	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28437220	28437221	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437220_28437221CC>AA	ENST00000261609.7	-	53	8445_8446	c.8337_8338GG>TT	c.(8335-8340)ctGGac>ctTTac	p.D2780Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACCAGCTGTCCAGCAGCATGC	0.569											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(8338-8340)Gac>Tac|c.(8335-8337)ctG>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28437220C>A|g.chr15:28437221C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8337_8338delinsAA	15.37:g.28437220_28437221delinsAA	ENSP00000261609:p.Asp2780Tyr		OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.D2780Y|p.L2779L	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	53	8446|8445	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2780|2779			DOC.			Missense_Mutation|Silent	SNP	ENST00000261609.7	37	c.8338G>T|c.8337G>T	CCDS10021.1																																																																																				0.569	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		60|61	81|80	60	80	---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51221310	51221310	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:51221310A>C	ENST00000261842.5	+	6	753	c.647A>C	c.(646-648)gAc>gCc	p.D216A	AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	216					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCACTTTGTGACAGAGATGTT	0.353																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(646-648)gAc>gCc		adaptor-related protein complex 4, epsilon 1 subunit							107.0	105.0	106.0					15																	51221310		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51221310A>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.647A>C	15.37:g.51221310A>C	ENSP00000261842:p.Asp216Ala					AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	p.D216A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	6	753	+			216					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.647A>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571419	0.86542	.	.	ENSG00000081014	ENST00000261842	T	0.46063	0.88	5.5	5.5	0.81552	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75639	-0.3248	10	0.87932	D	0	-12.3762	14.7863	0.69806	1.0:0.0:0.0:0.0	.	216;216	B4DM48;Q9UPM8	.;AP4E1_HUMAN	A	216	ENSP00000261842:D216A	ENSP00000261842:D216A	D	+	2	0	AP4E1	49008602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.091000	0.63221	0.482000	0.46254	GAC		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			12	81	12	81	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54025336	54025336	+	Missense_Mutation	SNP	G	G	T	rs267604260		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:54025336G>T	ENST00000396328.1	-	2	250	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCCTGCAGGGAAGTCCTCAT	0.473																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(10-12)tCc>tAc		WD repeat domain 72							76.0	70.0	72.0					15																	54025336		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54025336G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.11C>A	15.37:g.54025336G>T	ENSP00000379619:p.Ser4Tyr					WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	2	250	-			4					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.11C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913386	0.33815	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.37411	1.2;1.2	4.42	1.54	0.23209	.	0.313976	0.27302	N	0.019988	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	T	0.14254	-1.0479	10	0.46703	T	0.11	.	7.9398	0.29952	0.2878:0.0:0.7122:0.0	.	4	Q3MJ13	WDR72_HUMAN	Y	4	ENSP00000379619:S4Y;ENSP00000353699:S4Y	ENSP00000353699:S4Y	S	-	2	0	WDR72	51812628	0.168000	0.22989	0.024000	0.17045	0.506000	0.33950	1.875000	0.39578	0.632000	0.30432	-0.136000	0.14681	TCC		0.473	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	31	24	31	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75819591	75819591	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:75819591C>T	ENST00000306726.2	-	2	587	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	25					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCGAGAAACTGCTTGGTAG	0.393																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(73-75)caG>caA		protein tyrosine phosphatase, non-receptor type 9							99.0	86.0	91.0					15																	75819591		2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75819591C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.75G>A	15.37:g.75819591C>T						CTD-2323K18.1_ENST00000568707.1_RNA	p.Q25Q	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			2	587	-			25					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.75G>A	CCDS10280.1																																																																																				0.393	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			22	26	22	26	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598853	81598853	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:81598853G>A	ENST00000302987.4	+	17	3772	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.D1257N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N			Q14005	IL16_HUMAN	interleukin 16	1258	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTACACGGAGACAAGCCTCT	0.577																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3769-3771)Gac>Aac		interleukin 16							137.0	138.0	137.0					15																	81598853		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598853G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3772G>A	15.37:g.81598853G>A	ENSP00000302935:p.Asp1258Asn					RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N	p.D1257N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			18	4129	+			1258			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3769G>A	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.724155|4.724155	0.89298|0.89298	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652|ENST00000394656	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	4.09|4.09	4.09|4.09	0.47781|0.47781	PDZ/DHR/GLGF (4);|.	0.000000|.	0.46442|.	D|.	0.000285|.	T|T	0.61615|0.61615	0.2361|0.2361	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	D;D;D;P;P|.	0.89917|.	0.999;1.0;1.0;0.841;0.791|.	D;D;D;D;P|.	0.91635|.	0.999;0.999;0.996;0.923;0.874|.	T|T	0.67496|0.67496	-0.5656|-0.5656	10|6	0.44086|0.87932	T|D	0.13|0	.|.	16.8389|16.8389	0.85963|0.85963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1089;750;647;1258;1257|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	N|K	1257;1089;1258;647;557|555	ENSP00000378155:D1257N;ENSP00000302935:D1258N;ENSP00000378147:D557N|.	ENSP00000302935:D1258N|ENSP00000378151:R555K	D|R	+|+	1|2	0|0	IL16|IL16	79385908|79385908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.537000|0.537000	0.34900|0.34900	8.841000|8.841000	0.92131|0.92131	2.256000|2.256000	0.74724|0.74724	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		40	56	40	56	---	---	---	---
FES	2242	broad.mit.edu	37	15	91437015	91437015	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:91437015G>T	ENST00000328850.3	+	17	2319	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000444422.2_Missense_Mutation_p.W656L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000394300.3_Missense_Mutation_p.W668L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCGTGAAGTGGACCGCACCT	0.617																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2176-2178)tGg>tTg		feline sarcoma oncogene							65.0	73.0	70.0					15																	91437015		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437015G>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2177G>T	15.37:g.91437015G>T	ENSP00000331504:p.Trp726Leu					FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000444422.2_Missense_Mutation_p.W656L	p.W726L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		17	2319	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		726			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2177G>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364914	0.82463	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.98048	4.135	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	D	0.93165	0.6561	10	0.87932	D	0	-26.3494	19.1664	0.93559	0.0:0.0:1.0:0.0	.	708;598;585;668;656;726	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	726;598;585;656;668;598	ENSP00000331504:W726L;ENSP00000414629:W598L;ENSP00000377839:W585L;ENSP00000400868:W656L;ENSP00000377837:W668L;ENSP00000409915:W598L	ENSP00000331504:W726L	W	+	2	0	FES	89238019	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	9.860000	0.99555	2.544000	0.85801	0.485000	0.47835	TGG		0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	85	8	85	---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31234164	31234164	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:31234164G>T	ENST00000322122.3	+	6	1041	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGATCCTGGCAGAGTCTCC	0.612																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(757-759)Gca>Tca		tripartite motif containing 72							38.0	39.0	39.0					16																	31234164		2196	4300	6496	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31234164G>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.757G>T	16.37:g.31234164G>T	ENSP00000312675:p.Ala253Ser						p.A253S	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			6	1041	+			253						Missense_Mutation	SNP	ENST00000322122.3	37	c.757G>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474754	0.26511	.	.	ENSG00000177238	ENST00000322122	T	0.62639	0.01	5.04	3.99	0.46301	.	0.632657	0.14521	N	0.314453	T	0.55178	0.1904	L	0.51422	1.61	0.29930	N	0.821953	B	0.02656	0.0	B	0.04013	0.001	T	0.50074	-0.8870	10	0.22109	T	0.4	.	12.8432	0.57815	0.0:0.0:0.7888:0.2112	.	253	Q6ZMU5	TRI72_HUMAN	S	253	ENSP00000312675:A253S	ENSP00000312675:A253S	A	+	1	0	TRIM72	31141665	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.033000	0.41136	0.877000	0.35895	0.561000	0.74099	GCA		0.612	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		3	25	3	25	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67183601	67183601	+	IGR	SNP	G	G	A	rs376245125		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:67183601G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.P263L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTGCGGATGGGCCGCGCATG	0.657																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(787-789)cCc>cTc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							13.0	15.0	15.0					16																	67183601		1995	4137	6132	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183601G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183601G>A							p.P263L	NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN			2	1323	-			263					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.788C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525536	0.85600	.	.	ENSG00000237172	ENST00000449549	T	0.43688	0.94	5.02	4.04	0.47022	.	.	.	.	.	T	0.74366	0.3707	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82827	-0.0265	9	0.87932	D	0	-24.1261	13.8381	0.63421	0.0:0.1547:0.8453:0.0	.	263	Q6UX72	B3GN9_HUMAN	L	263	ENSP00000400157:P263L	ENSP00000400157:P263L	P	-	2	0	B3GNT9	65741102	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	9.861000	0.99562	1.054000	0.40438	0.556000	0.70494	CCC		0.657	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	15	4	15	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70589037	70589037	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:70589037G>A	ENST00000302516.5	+	13	1849	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	546					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAATTGTGAAGTGTGCAGTGA	0.463																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(1636-1638)aaG>aaA		splicing factor 3b, subunit 3, 130kDa							241.0	230.0	234.0					16																	70589037		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589037G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1638G>A	16.37:g.70589037G>A							p.K546K	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			13	1849	+		Ovarian(137;0.0694)	546					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1638G>A	CCDS10894.1																																																																																				0.463	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		67	49	67	49	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71318227	71318227	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:71318227A>C	ENST00000338099.5	-	3	1933	c.1597T>G	c.(1597-1599)Ttg>Gtg	p.L533V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	533					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TTGGAATCCAAATTAAAAGCT	0.343																																						ENST00000338099.5																			0											c.(1597-1599)Ttg>Gtg		cap methyltransferase 2							42.0	44.0	43.0					16																	71318227		2197	4298	6495	SO:0001583	missense	55783							g.chr16:71318227A>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1597T>G	16.37:g.71318227A>C	ENSP00000337512:p.Leu533Val					CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V	p.L533V							3	1933	-			533					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1597T>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	1.665	-0.510570	0.04231	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13901	2.55;2.55	5.22	2.89	0.33648	.	0.663600	0.14612	N	0.309000	T	0.05364	0.0142	N	0.08118	0	0.21553	N	0.999645	B	0.06786	0.001	B	0.04013	0.001	T	0.44360	-0.9333	10	0.08837	T	0.75	-30.5681	5.1567	0.15038	0.655:0.2484:0.0967:0.0	.	533	Q8IYT2	FTSJ1_HUMAN	V	533	ENSP00000337512:L533V;ENSP00000411148:L533V	ENSP00000337512:L533V	L	-	1	2	FTSJD1	69875728	0.016000	0.18221	0.998000	0.56505	0.821000	0.46438	0.049000	0.14099	0.406000	0.25560	0.459000	0.35465	TTG		0.343	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		33	19	33	19	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90106851	90106851	+	Missense_Mutation	SNP	C	C	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:90106851C>G	ENST00000268699.4	+	9	1277	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|URAHP_ENST00000517889.1_RNA|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	385					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGTGCAGTTCAACGAGGTCC	0.622																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1153-1155)ttC>ttG		growth arrest-specific 8							72.0	61.0	65.0					16																	90106851		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90106851C>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1155C>G	16.37:g.90106851C>G	ENSP00000268699:p.Phe385Leu					GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR	p.F385L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	9	1277	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	385					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1155C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	5.076	0.199612	0.09652	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.18960	2.18;2.18	5.68	2.35	0.29111	.	0.345212	0.34725	N	0.003723	T	0.03178	0.0093	N	0.00114	-2.085	0.28390	N	0.919139	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37150	-0.9718	9	.	.	.	-7.5789	5.4659	0.16642	0.1133:0.6259:0.124:0.1367	.	356;385	B7Z1X3;O95995	.;GAS8_HUMAN	L	360;385;356	ENSP00000440977:F360L;ENSP00000268699:F385L	.	F	+	3	2	GAS8	88634352	0.999000	0.42202	0.991000	0.47740	0.816000	0.46133	0.837000	0.27558	0.727000	0.32360	0.650000	0.86243	TTC		0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			14	2	14	2	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446277	10446277	+	Silent	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:10446277C>T	ENST00000245503.5	-	10	1203	c.819G>A	c.(817-819)aaG>aaA	p.K273K	MYH2_ENST00000397183.2_Silent_p.K273K|MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	273	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACTCTAGACTTCTCTAGCA	0.313																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(817-819)aaG>aaA		myosin, heavy chain 2, skeletal muscle, adult							46.0	48.0	48.0					17																	10446277		2202	4295	6497	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446277C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.819G>A	17.37:g.10446277C>T						MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K273K	p.K273K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			10	1203	-			273			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.819G>A	CCDS11156.1																																																																																				0.313	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		3	19	3	19	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37676290	37676290	+	Silent	SNP	A	A	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:37676290A>G	ENST00000447079.4	+	11	3078	c.3045A>G	c.(3043-3045)ctA>ctG	p.L1015L	CDK12_ENST00000430627.2_Silent_p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1015	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGACCCTACAGAGCGACT	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3043-3045)ctA>ctG		cyclin-dependent kinase 12							181.0	151.0	161.0					17																	37676290		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37676290A>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3045A>G	17.37:g.37676290A>G		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Silent_p.L1015L	p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			11	3078	+			1015			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3045A>G	CCDS11337.1																																																																																				0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		33	9	33	9	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41251796	41251796	+	Missense_Mutation	SNP	T	T	G	rs397507250		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:41251796T>G	ENST00000357654.3	-	7	661	c.543A>C	c.(541-543)gaA>gaC	p.E181D	BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	181					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAATTCAATGTAGA	0.378			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(541-543)gaA>gaC	Homologous recombination	breast cancer 1, early onset							129.0	126.0	127.0					17																	41251796		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41251796T>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.543A>C	17.37:g.41251796T>G	ENSP00000350283:p.Glu181Asp	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron	p.E181D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	661	-		Breast(137;0.000717)	181					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.543A>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.47|10.47	1.358064|1.358064	0.24598|0.24598	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777|ENST00000473961	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.98028|.	-2.67;-2.74;-2.6;-2.72;-2.39;-2.48;-3.05;-2.67;-2.8;-2.32;-2.05;-2.63;-1.93;-3.19;-4.67;-2.87;-2.37|.	5.16|5.16	-1.03|-1.03	0.10102|0.10102	.|.	0.240850|.	0.30109|.	N|.	0.010381|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B;B;B;B|.	0.33103|.	0.355;0.397;0.274;0.016;0.016;0.016;0.394;0.274;0.016;0.001;0.004|.	B;B;B;B;B;B;B;B;B;B;B|.	0.33690|.	0.1;0.121;0.081;0.012;0.019;0.012;0.168;0.056;0.012;0.002;0.011|.	T|T	0.20806|0.20806	-1.0264|-1.0264	10|5	0.59425|.	D|.	0.04|.	.|.	1.0776|1.0776	0.01636|0.01636	0.1458:0.1666:0.3023:0.3852|0.1458:0.1666:0.3023:0.3852	.|.	180;134;180;181;181;181;181;181;181;181;181|.	E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.|.	D|T	181;181;181;181;181;181;181;134;181;134;180;180;96;134;97;181;155;181;180|88	ENSP00000350283:E181D;ENSP00000326002:E181D;ENSP00000312236:E181D;ENSP00000246907:E181D;ENSP00000338007:E181D;ENSP00000417148:E181D;ENSP00000377294:E134D;ENSP00000418960:E181D;ENSP00000418775:E134D;ENSP00000420412:E180D;ENSP00000419481:E96D;ENSP00000418819:E134D;ENSP00000418212:E97D;ENSP00000419274:E181D;ENSP00000419988:E155D;ENSP00000419103:E181D;ENSP00000417554:E180D|.	ENSP00000246907:E181D|.	E|N	-|-	3|2	2|0	BRCA1|BRCA1	38505322|38505322	0.696000|0.696000	0.27757|0.27757	0.243000|0.243000	0.24186|0.24186	0.240000|0.240000	0.25518|0.25518	0.114000|0.114000	0.15520|0.15520	-0.095000|-0.095000	0.12351|0.12351	-0.389000|-0.389000	0.06534|0.06534	GAA|AAT		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		140	105	140	105	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247778	56247778	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:56247778C>A	ENST00000545221.1	+	1	762	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTTCCAAGCATTTACCTCT	0.537																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(760-762)agC>agA		olfactory receptor, family 4, subfamily D, member 2							184.0	136.0	152.0					17																	56247778		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247778C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.762C>A	17.37:g.56247778C>A	ENSP00000441354:p.Ser254Arg						p.S254R	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	762	+			254					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.762C>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531952	0.27387	.	.	ENSG00000255713	ENST00000545221	T	0.00099	8.73	5.71	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.091972	0.47852	D	0.000219	T	0.00300	0.0009	M	0.62088	1.915	0.29298	N	0.868863	D	0.60160	0.987	P	0.62740	0.906	T	0.43015	-0.9417	10	0.87932	D	0	-27.5663	7.1663	0.25693	0.0:0.5095:0.0:0.4905	.	254	P58180	OR4D2_HUMAN	R	254	ENSP00000441354:S254R	ENSP00000441354:S254R	S	+	3	2	OR4D2	53602777	0.373000	0.25073	1.000000	0.80357	0.068000	0.16541	-0.266000	0.08631	0.377000	0.24735	-0.192000	0.12808	AGC		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			33	3	33	3	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877442	2877442	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:2877442G>A	ENST00000307635.2	+	4	573	c.486G>A	c.(484-486)ctG>ctA	p.L162L	ZNF556_ENST00000586426.1_Silent_p.L161L	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	162					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCATCCCTGATAAGGCACA	0.428																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(481-483)ctG>ctA		zinc finger protein 556							118.0	111.0	113.0					19																	2877442		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877442G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.486G>A	19.37:g.2877442G>A						ZNF556_ENST00000307635.2_Silent_p.L162L	p.L161L			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	570	+			162					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.483G>A	CCDS12097.1																																																																																				0.428	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		40	51	40	51	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7812334	7812334	+	Intron	SNP	G	G	A	rs201938697	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:7812334G>A	ENST00000315599.7	-	1	69				CD209_ENST00000204801.8_Intron|CD209_ENST00000601951.1_De_novo_Start_OutOfFrame|CD209_ENST00000602261.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_De_novo_Start_OutOfFrame|CD209_ENST00000601256.1_De_novo_Start_OutOfFrame|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule						antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAATCCCAGCGTCCCAACCCA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		15073	0.002		0.0	False		,,,				2504	0.0					ENST00000593660.1																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35								CD209 molecule							164.0	169.0	167.0					19																	7812334		2203	4300	6503	SO:0001627	intron_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812334G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.46+17C>T	19.37:g.7812334G>A						CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_De_novo_Start_OutOfFrame|CD209_ENST00000204801.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_De_novo_Start_OutOfFrame|CD209_ENST00000315591.8_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315599.7_Intron				Q9NNX6	CD209_HUMAN			0	63	-								A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Translation_Start_Site	SNP	ENST00000315599.7	37		CCDS12186.1																																																																																				0.607	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		87	78	87	78	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273222	18273222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:18273222G>T	ENST00000593731.1	+	9	1575	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	339	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CCACAGGGAGGAGGTGAACGA	0.617																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1015-1017)Gag>Tag		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							47.0	39.0	42.0					19																	18273222		2203	4300	6503	SO:0001587	stop_gained	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273222G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1015G>T	19.37:g.18273222G>T	ENSP00000471914:p.Glu339*					PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*	p.E339*			O00459	P85B_HUMAN			9	1575	+			339			SH2 1.		Q5EAT5|Q9UPH9	Nonsense_Mutation	SNP	ENST00000593731.1	37	c.1015G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	44	11.035562	0.99506	.	.	ENSG00000105647	ENST00000222254	.	.	.	4.32	4.32	0.51571	.	0.115488	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.3198	16.178	0.81874	0.0:0.0:1.0:0.0	.	.	.	.	X	339	.	ENSP00000222254:E339X	E	+	1	0	PIK3R2	18134222	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.626000	0.98410	2.143000	0.66587	0.491000	0.48974	GAG		0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		13	19	13	19	---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46184863	46184863	+	Splice_Site	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:46184863G>T	ENST00000590918.1	+	13	1253	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	GIPR_ENST00000304207.8_Splice_Site_p.G349V|GIPR_ENST00000263281.3_Splice_Site_p.G385V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	385					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCTGGGCAGGGCTTCCTGGTC	0.652																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(1153-1155)gGc>gTc		gastric inhibitory polypeptide receptor							31.0	36.0	35.0					19																	46184863		2202	4300	6502	SO:0001630	splice_region_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46184863G>T		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1153-1G>T	19.37:g.46184863G>T						GIPR_ENST00000304207.8_Splice_Site_p.G349V|GIPR_ENST00000263281.3_Splice_Site_p.G385V	p.G385V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	13	1253	+		Ovarian(192;0.051)|all_neural(266;0.112)	385					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Splice_Site	SNP	ENST00000590918.1	37	c.1154G>T	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629076	0.87560	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	D;D	0.84660	-1.88;-1.88	4.81	4.81	0.61882	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.49916	D	0.000121	D	0.93818	0.8023	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94879	0.8037	10	0.87932	D	0	.	13.2605	0.60102	0.0:0.0:1.0:0.0	.	349;385;385	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	385;349	ENSP00000263281:G385V;ENSP00000305321:G349V	ENSP00000263281:G385V	G	+	2	0	GIPR	50876703	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	8.966000	0.93397	2.497000	0.84241	0.561000	0.74099	GGC		0.652	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1		Missense_Mutation	4	23	4	23	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47593282	47593282	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:47593282G>T	ENST00000253048.5	-	5	694	c.657C>A	c.(655-657)gaC>gaA	p.D219E	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	219							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTTTGGTGAAGTCGTCATAGT	0.582																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(655-657)gaC>gaA		zinc finger CCCH-type containing 4							134.0	136.0	135.0					19																	47593282		2158	4247	6405	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47593282G>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.657C>A	19.37:g.47593282G>T	ENSP00000253048:p.Asp219Glu					ZC3H4_ENST00000594019.1_5'UTR	p.D219E	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	5	694	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	219					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.657C>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007743	0.54361	.	.	ENSG00000130749	ENST00000253048	T	0.27557	1.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.68317	2.08	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.43653	-0.9378	10	0.38643	T	0.18	.	12.7607	0.57363	0.0788:0.0:0.9212:0.0	.	219	Q9UPT8	ZC3H4_HUMAN	E	219	ENSP00000253048:D219E	ENSP00000253048:D219E	D	-	3	2	ZC3H4	52285122	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	5.270000	0.65547	2.710000	0.92621	0.655000	0.94253	GAC		0.582	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			18	23	18	23	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9416222	9416222	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:9416222T>G	ENST00000378493.1	+	25	2519	c.2504T>G	c.(2503-2505)tTa>tGa	p.L835*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.L835*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTGGATGCTTTATCAGATCCA	0.338																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2503-2505)tTa>tGa		phospholipase C, beta 4							89.0	96.0	94.0					20																	9416222		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9416222T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2504T>G	20.37:g.9416222T>G	ENSP00000367754:p.Leu835*					PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR	p.L835*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			25	2519	+			835					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2504T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	44	10.546566	0.99425	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	.	.	.	X	835;847;835;835;835;683	.	ENSP00000278655:L835X	L	+	2	0	PLCB4	9364222	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.513000	0.81739	2.288000	0.76882	0.528000	0.53228	TTA		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			14	27	14	27	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33509154	33509154	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:33509154G>T	ENST00000360596.2	+	11	1510	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H|ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	433					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATCCTTGCAGGTGTTAGGCA	0.602																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1297-1299)caG>caT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						68.0	70.0	70.0					20																	33509154		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509154G>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1299G>T	20.37:g.33509154G>T	ENSP00000353804:p.Gln433His					ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	p.Q433H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			11	1510	+			433					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1299G>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937453	0.73557	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41758	0.99;0.99;0.99	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.207904	0.48767	D	0.000163	T	0.44329	0.1288	N	0.21282	0.65	0.48135	D	0.999594	P;P	0.37176	0.586;0.586	P;P	0.46419	0.516;0.516	T	0.43861	-0.9365	10	0.87932	D	0	-13.4273	19.6361	0.95733	0.0:0.0:1.0:0.0	.	446;433	Q5QPH3;Q9NR19	.;ACSA_HUMAN	H	383;433;431;141;446	ENSP00000337190:Q383H;ENSP00000353804:Q433H;ENSP00000253382:Q446H	ENSP00000253382:Q446H	Q	+	3	2	ACSS2	32972815	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.250000	0.43178	2.878000	0.98634	0.650000	0.86243	CAG		0.602	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		7	64	7	64	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34099346	34099346	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:34099346T>A	ENST00000397527.1	+	35	7940	c.7220T>A	c.(7219-7221)cTg>cAg	p.L2407Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2407					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCACTGTCCTGGAGGCAGAG	0.647																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7219-7221)cTg>cAg		centrosomal protein 250kDa							49.0	48.0	48.0					20																	34099346		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099346T>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7220T>A	20.37:g.34099346T>A	ENSP00000380661:p.Leu2407Gln					CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	p.L2407Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7940	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2407					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7220T>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946986	0.73672	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.77877	0.49;0.41;-1.13	4.75	4.75	0.60458	.	0.000000	0.41097	D	0.000952	D	0.87481	0.6188	M	0.77616	2.38	0.38556	D	0.94957	D	0.89917	1.0	D	0.91635	0.999	D	0.90263	0.4302	10	0.87932	D	0	.	14.0853	0.64951	0.0:0.0:0.0:1.0	.	2407	Q9BV73	CP250_HUMAN	Q	2407;2351;842	ENSP00000380661:L2407Q;ENSP00000341541:L2351Q;ENSP00000395992:L842Q	ENSP00000341541:L2351Q	L	+	2	0	CEP250	33562760	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	5.286000	0.65639	2.006000	0.58801	0.459000	0.35465	CTG		0.647	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		3	41	3	41	---	---	---	---
MLC1	23209	broad.mit.edu	37	22	50500057	50500057	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr22:50500057G>A	ENST00000311597.5	-	12	1695	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000450140.2_Silent_p.D311D	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	363					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTTTCTCCTTGTCGAACTCCT	0.642																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1087-1089)gaC>gaT		megalencephalic leukoencephalopathy with subcortical cysts 1							60.0	57.0	58.0					22																	50500057		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50500057G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1089C>T	22.37:g.50500057G>A						MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR	p.D363D	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	12	1695	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	363					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.1089C>T	CCDS14083.1																																																																																				0.642	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		25	25	25	25	---	---	---	---
YIPF6	286451	broad.mit.edu	37	X	67731784	67731784	+	Missense_Mutation	SNP	A	A	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:67731784A>T	ENST00000462683.1	+	2	895	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	51					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGAGTTTGACAGCTCCACATT	0.408																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(151-153)Agc>Tgc		Yip1 domain family, member 6							153.0	132.0	139.0					X																	67731784		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731784A>T	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.151A>T	X.37:g.67731784A>T	ENSP00000417573:p.Ser51Cys					YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron	p.S51C	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			2	895	+			51					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.151A>T	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843631	0.51164	.	.	ENSG00000181704	ENST00000462683	T	0.45668	0.89	5.66	4.45	0.53987	.	0.498482	0.25294	N	0.031705	T	0.25232	0.0613	L	0.36672	1.1	0.80722	D	1	P	0.35077	0.483	B	0.25506	0.061	T	0.11494	-1.0585	10	0.41790	T	0.15	-0.0485	4.4136	0.11445	0.5896:0.1612:0.0:0.2492	.	51	Q96EC8	YIPF6_HUMAN	C	51	ENSP00000417573:S51C	ENSP00000417573:S51C	S	+	1	0	YIPF6	67648509	0.994000	0.37717	0.998000	0.56505	0.925000	0.55904	1.748000	0.38308	1.921000	0.55644	0.427000	0.28365	AGC		0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		99	4	99	4	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128894500	128894500	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:128894500C>T	ENST00000371106.3	+	16	1633	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	481						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GGCATACACCCGTGTGCTGAT	0.552																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1441-1443)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							297.0	258.0	271.0					X																	128894500		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128894500C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1441C>T	X.37:g.128894500C>T	ENSP00000360147:p.Arg481Cys						p.R481C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			16	1633	+			481					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1441C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785108	0.31593	.	.	ENSG00000122121	ENST00000371106	T	0.76968	-1.06	5.25	4.3	0.51218	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.89353	3.025	0.30474	N	0.773055	D	0.89917	1.0	D	0.74674	0.984	D	0.86285	0.1670	10	0.42905	T	0.14	-13.6366	12.6804	0.56918	0.1775:0.8225:0.0:0.0	.	481	O43895	XPP2_HUMAN	C	481	ENSP00000360147:R481C	ENSP00000360147:R481C	R	+	1	0	XPNPEP2	128722181	0.952000	0.32445	0.251000	0.24312	0.160000	0.22226	1.965000	0.40471	2.178000	0.69098	0.513000	0.50165	CGT		0.552	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		129	166	129	166	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129200819	129200819	+	Silent	SNP	G	G	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:129200819G>A	ENST00000308167.5	-	9	2248	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	ELF4_ENST00000335997.7_Silent_p.S623S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATCAGCAGGGACCCTGAGC	0.592			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1867-1869)tcC>tcT		E74-like factor 4 (ets domain transcription factor)							79.0	88.0	85.0					X																	129200819		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200819G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1869C>T	X.37:g.129200819G>A						ELF4_ENST00000335997.7_Silent_p.S623S	p.S623S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	2248	-			623						Silent	SNP	ENST00000308167.5	37	c.1869C>T	CCDS14617.1																																																																																				0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		19	78	19	78	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135309468	135309468	+	Missense_Mutation	SNP	T	T	A			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:135309468T>A	ENST00000316077.9	-	12	2229	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGGTCTTCCTGATCCAGCCA	0.448																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(2008-2010)cAg>cTg		MAP7 domain containing 3							206.0	186.0	193.0					X																	135309468		1962	4123	6085	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135309468T>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2009A>T	X.37:g.135309468T>A	ENSP00000318086:p.Gln670Leu					MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000495432.1_5'UTR	p.Q670L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			12	2229	-	Acute lymphoblastic leukemia(192;0.000127)		670					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2009A>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582740	0.46006	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.82	-0.651	0.11454	.	.	.	.	.	T	0.29158	0.0725	L	0.40543	1.245	0.09310	N	1	D;D;D;P	0.58268	0.979;0.982;0.979;0.944	P;P;P;P	0.54759	0.76;0.7;0.76;0.548	T	0.17715	-1.0360	9	0.62326	D	0.03	0.0211	7.1552	0.25632	0.0:0.0874:0.4811:0.4314	.	652;629;670;635	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	635;670;652;629	ENSP00000359695:Q635L;ENSP00000318086:Q670L;ENSP00000359697:Q652L;ENSP00000359694:Q629L	ENSP00000318086:Q670L	Q	-	2	0	MAP7D3	135137134	0.001000	0.12720	0.000000	0.03702	0.247000	0.25773	0.108000	0.15396	-0.313000	0.08728	0.486000	0.48141	CAG		0.448	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			28	38	28	38	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153130077	153130077	+	Missense_Mutation	SNP	G	G	C			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:153130077G>C	ENST00000370060.1	-	24	3318	c.3129C>G	c.(3127-3129)tgC>tgG	p.C1043W	L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1043	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAGTTGCACTGGCCCT	0.597																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3127-3129)tgC>tgG		L1 cell adhesion molecule							119.0	114.0	116.0					X																	153130077		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130077G>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3129C>G	X.37:g.153130077G>C	ENSP00000359077:p.Cys1043Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W	p.C1043W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			24	3318	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1043			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3129C>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847853	0.32606	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.9	2.71	0.32032	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.763357	0.11858	N	0.522666	T	0.73705	0.3621	N	0.19112	0.55	0.42496	D	0.992914	B;P;B	0.43352	0.001;0.804;0.0	B;B;B	0.40375	0.001;0.327;0.0	T	0.70085	-0.4969	10	0.66056	D	0.02	.	5.9481	0.19229	0.1273:0.1971:0.6756:0.0	.	1038;1043;1043	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	1043;1045;1043;1045;1038;1038;1043	ENSP00000359077:C1043W;ENSP00000438430:C1045W;ENSP00000359074:C1043W;ENSP00000439645:C1045W;ENSP00000354712:C1038W;ENSP00000359072:C1038W;ENSP00000355380:C1043W	ENSP00000355380:C1043W	C	-	3	2	L1CAM	152783271	1.000000	0.71417	0.755000	0.31263	0.323000	0.28346	1.592000	0.36676	0.844000	0.35094	0.529000	0.55759	TGC		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		48	65	48	65	---	---	---	---
TUBA4B	80086	broad.mit.edu	37	2	220136477	220136480	+	RNA	DEL	TGTG	TGTG	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:220136477_220136480delTGTG	ENST00000490341.1	+	0	947_950					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										ACCATGGAGATGTGGTGCCCAAGG	0.529																																						ENST00000490341.1																			0																																																			80086							g.chr2:220136477_220136480delTGTG	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136477_220136480delTGTG								NR_003063.1						0	947_950	+									RNA	DEL	ENST00000490341.1	37																																																																																						0.529	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		9	47	9	47	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52757020	52757031	+	Splice_Site	DEL	TGCCACTCACCT	TGCCACTCACCT	-			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:52757020_52757031delTGCCACTCACCT	ENST00000257901.3	-	5	1025_1027	c.950_952delAGGTGAGTGGCA	c.(949-954)aaggtg>atg	p.317_318KV>M	KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	317	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGTCCTGTGCCACTCACCTTGCTACGGTA	0.547																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(949-954)aaggtg>atg		keratin 85																																				SO:0001630	splice_region_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757020_52757031delTGCCACTCACCT	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.951+1AGGTGAGTGGCA>-	12.37:g.52757020_52757031delTGCCACTCACCT						KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	p.317_318KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1025_1027	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		317			Coil 2.|Rod.		Q9NSB1	Splice_Site	DEL	ENST00000257901.3	37	c.950_952delAGGTGAGTGGCA	CCDS8824.1																																																																																				0.547	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	In_Frame_Del	8	21	8	21	---	---	---	---
