#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CHD5	26038	broad.mit.edu	37	1	6172998	6172998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:6172998C>A	ENST00000262450.3	-	34	5072	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I	CHD5_ENST00000378021.1_Missense_Mutation_p.S515I	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCCCCTCTGCTGTGGATCAA	0.592																																						uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(4972-4974)AGC>ATC		chromodomain helicase DNA binding protein 5							125.0	109.0	114.0					1																	6172998		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6172998C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4973G>T	1.37:g.6172998C>A	ENSP00000262450:p.Ser1658Ile					CHD5_uc001alz.1_Missense_Mutation_p.S515I|CHD5_uc001ama.1_RNA	p.S1658I	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5073	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1658					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4973G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.254449	0.59212	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.90900	-2.75;2.21	4.49	4.49	0.54785	.	0.476949	0.20453	N	0.092045	T	0.81375	0.4809	N	0.14661	0.345	0.31304	N	0.687913	B;P	0.50943	0.255;0.94	B;B	0.38655	0.076;0.278	T	0.82430	-0.0461	10	0.38643	T	0.18	-22.8583	14.3851	0.66940	0.0:1.0:0.0:0.0	.	1658;515	Q8TDI0;Q5TG85	CHD5_HUMAN;.	I	1658;515;515	ENSP00000262450:S1658I;ENSP00000367260:S515I	ENSP00000262450:S1658I	S	-	2	0	CHD5	6095585	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.535000	0.45685	2.474000	0.83562	0.655000	0.94253	AGC		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		32	65	1	0	1.46e-13	1.96e-13	32	65				
PTCHD2	57540	broad.mit.edu	37	1	11562935	11562935	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:11562935C>T	ENST00000294484.6	+	3	1435	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	PTCHD2_ENST00000389575.3_Silent_p.L433L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	433					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L650L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATGCTGGCCAAGCA	0.522																																						uc001ash.3		NA																	1	Substitution - coding silent(1)		kidney(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(1297-1299)CTG>TTG		patched domain containing 2							63.0	66.0	65.0					1																	11562935		2033	4188	6221	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562935C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1297C>T	1.37:g.11562935C>T						PTCHD2_uc001asi.1_Silent_p.L433L	p.L433L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	3	1435	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	433			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1297C>T	CCDS41247.1																																																																																				0.522	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		3	54	0	0	0	0	3	54				
C1orf64	149563	broad.mit.edu	37	1	16332707	16332707	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:16332707C>T	ENST00000329454.2	+	2	444	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	126										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGTCAGCCCGCTCTGCCC	0.647																																						uc001axn.2		NA																	0				breast(2)	2						c.(376-378)CCG>TCG		hypothetical protein LOC149563							40.0	42.0	41.0					1																	16332707		2203	4300	6503	SO:0001583	missense	149563							g.chr1:16332707C>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.376C>T	1.37:g.16332707C>T	ENSP00000332162:p.Pro126Ser						p.P126S	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	444	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	126					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.376C>T	CCDS166.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479543	0.26511	.	.	ENSG00000183888	ENST00000329454	T	0.42513	0.97	5.28	2.37	0.29283	.	0.446041	0.19379	N	0.115718	T	0.25791	0.0628	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.17979	0.02	T	0.15838	-1.0423	10	0.40728	T	0.16	-1.4976	4.8764	0.13658	0.1689:0.6514:0.0:0.1797	.	126	Q8NEQ6	CA064_HUMAN	S	126	ENSP00000332162:P126S	ENSP00000332162:P126S	P	+	1	0	C1orf64	16205294	0.000000	0.05858	0.102000	0.21198	0.204000	0.24138	0.475000	0.22164	0.228000	0.21019	0.514000	0.50259	CCG		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		20	35	0	0	0	0	20	35				
EPHA8	2046	broad.mit.edu	37	1	22927549	22927549	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:22927549T>C	ENST00000166244.3	+	15	2769	c.2697T>C	c.(2695-2697)ccT>ccC	p.P899P		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	899					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCAGCCCTGAGAGTCTCA	0.647																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2695-2697)CCT>CCC		ephrin receptor EphA8 isoform 1 precursor							39.0	40.0	40.0					1																	22927549		2201	4298	6499	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927549T>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2697T>C	1.37:g.22927549T>C							p.P899P	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2822	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	899			Cytoplasmic (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2697T>C	CCDS225.1																																																																																				0.647	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	87	0	0	0	0	3	87				
NCDN	23154	broad.mit.edu	37	1	36028893	36028893	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:36028893G>C	ENST00000373243.2	+	5	1859	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	NCDN_ENST00000373253.3_Missense_Mutation_p.K475N|NCDN_ENST00000356090.4_Missense_Mutation_p.K492N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	492					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTGTGCAAGTATTTCCTGC	0.622																																						uc001bza.2		NA																	0				large_intestine(2)|pancreas(1)	3						c.(1474-1476)AAG>AAC		neurochondrin isoform 1							95.0	93.0	94.0					1																	36028893		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36028893G>C	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1476G>C	1.37:g.36028893G>C	ENSP00000362340:p.Lys492Asn					NCDN_uc001bzb.2_Missense_Mutation_p.K492N|NCDN_uc001bzc.2_Missense_Mutation_p.K475N	p.K492N	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			6	1603	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	492					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1476G>C	CCDS392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.212811|2.212811	0.39102|0.39102	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243|ENST00000423723	T|.	0.69561|.	-0.41|.	4.71|4.71	1.75|1.75	0.24633|0.24633	.|.	0.201344|.	0.40064|.	N|.	0.001186|.	T|T	0.15046|0.15046	0.0363|0.0363	N|N	0.08118|0.08118	0|0	0.31720|0.31720	N|N	0.638477|0.638477	B|.	0.12013|.	0.005|.	B|.	0.12837|.	0.008|.	T|T	0.21381|0.21381	-1.0247|-1.0247	10|5	0.66056|.	D|.	0.02|.	.|.	2.2122|2.2122	0.03951|0.03951	0.2304:0.1356:0.4955:0.1385|0.2304:0.1356:0.4955:0.1385	.|.	492|.	Q9UBB6|.	NCDN_HUMAN|.	N|T	475;492;492|86	ENSP00000362350:K475N|.	ENSP00000348394:K492N|.	K|S	+|+	3|2	2|0	NCDN|NCDN	35801480|35801480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.970000|0.970000	0.29383|0.29383	0.967000|0.967000	0.38186|0.38186	0.462000|0.462000	0.41574|0.41574	AAG|AGT		0.622	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		31	81	0	0	0	0	31	81				
KIAA0754	643314	broad.mit.edu	37	1	39879476	39879476	+	Missense_Mutation	SNP	C	C	G	rs565712957		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:39879476C>G	ENST00000530275.1	+	1	3326	c.3131C>G	c.(3130-3132)gCa>gGa	p.A1044G	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1044	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCACCCCAGCAGAATCTGCC	0.662																																						uc009vvt.1		NA																	0					0						c.(3538-3540)GCA>GGA		hypothetical protein LOC643314							21.0	24.0	23.0					1																	39879476		1969	4147	6116	SO:0001583	missense	643314							g.chr1:39879476C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3131C>G	1.37:g.39879476C>G	ENSP00000431179:p.Ala1044Gly					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.A1180G	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4301	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1044			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3539C>G		.	.	.	.	.	.	.	.	.	.	N	11.12	1.545860	0.27652	.	.	ENSG00000255103	ENST00000530275	T	0.24538	1.85	3.05	-6.09	0.02145	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	P	0.55161	0.77	T	0.12344	-1.0551	9	0.27082	T	0.32	.	6.9656	0.24621	0.3393:0.1419:0.5189:0.0	.	1044	O94854	K0754_HUMAN	G	1044	ENSP00000431179:A1044G	ENSP00000431179:A1044G	A	+	2	0	RP4-562N20.1	39652063	0.036000	0.19791	0.000000	0.03702	0.002000	0.02628	0.120000	0.15647	-1.363000	0.02164	-1.432000	0.01085	GCA		0.662	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		16	38	0	0	0	0	16	38				
C8A	731	broad.mit.edu	37	1	57341807	57341807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:57341807G>A	ENST00000361249.3	+	4	485	c.389G>A	c.(388-390)tGt>tAt	p.C130Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	130	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGACGACTGTGAAGATGTC	0.542																																						uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(388-390)TGT>TAT		complement component 8, alpha polypeptide							139.0	119.0	126.0					1																	57341807		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341807G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.389G>A	1.37:g.57341807G>A	ENSP00000354458:p.Cys130Tyr						p.C130Y	NM_000562	NP_000553	P07357	CO8A_HUMAN			4	521	+			130			LDL-receptor class A.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.389G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233441	0.79688	.	.	ENSG00000157131	ENST00000361249	D	0.99919	-8.0	5.84	5.84	0.93424	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99953	0.9980	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	-22.9444	20.1346	0.98019	0.0:0.0:1.0:0.0	.	130	P07357	CO8A_HUMAN	Y	130	ENSP00000354458:C130Y	ENSP00000354458:C130Y	C	+	2	0	C8A	57114395	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	8.822000	0.92013	2.765000	0.95021	0.655000	0.94253	TGT		0.542	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		16	38	0	0	0	0	16	38				
ST6GALNAC3	256435	broad.mit.edu	37	1	76779616	76779616	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:76779616C>A	ENST00000328299.3	+	2	293	c.145C>A	c.(145-147)Cca>Aca	p.P49T	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	49					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAGTGGATACCATTCTCCTA	0.453																																						uc001dhh.2		NA																	0				ovary(3)|skin(2)	5						c.(145-147)CCA>ACA		sialyltransferase 7C isoform 1							189.0	165.0	174.0					1																	76779616		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779616C>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.145C>A	1.37:g.76779616C>A	ENSP00000329214:p.Pro49Thr					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.P49T|ST6GALNAC3_uc010orh.1_Intron	p.P49T	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	308	+			49			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.145C>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354750	0.41700	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30714	1.52	5.12	5.12	0.69794	.	0.101327	0.64402	D	0.000003	T	0.27313	0.0670	L	0.27053	0.805	0.42659	D	0.993474	B;P	0.50528	0.037;0.936	B;P	0.55824	0.006;0.785	T	0.02411	-1.1163	10	0.40728	T	0.16	-31.7958	17.5329	0.87819	0.0:1.0:0.0:0.0	.	49;49	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	T	49;49;48	ENSP00000329214:P49T	ENSP00000329214:P49T	P	+	1	0	ST6GALNAC3	76552204	0.967000	0.33354	0.999000	0.59377	0.917000	0.54804	3.572000	0.53849	2.374000	0.81015	0.491000	0.48974	CCA		0.453	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		32	62	1	0	2.08e-15	2.87e-15	32	62				
SYDE2	84144	broad.mit.edu	37	1	85647842	85647842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:85647842C>T	ENST00000341460.5	-	3	2532	c.2483G>A	c.(2482-2484)gGa>gAa	p.G828E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	828	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCATCAGTCCTATATTTTC	0.348																																						uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2482-2484)GGA>GAA		synapse defective 1, Rho GTPase, homolog 2							46.0	41.0	43.0					1																	85647842		1805	4075	5880	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85647842C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2483G>A	1.37:g.85647842C>T	ENSP00000340594:p.Gly828Glu					SYDE2_uc001dku.3_Missense_Mutation_p.G828E	p.G828E	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	2532	-			828			Rho-GAP.		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.2483G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892951	0.52121	.	.	ENSG00000097096	ENST00000341460	T	0.46819	0.86	5.85	3.95	0.45737	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.58969	1.84	0.58432	D	0.999996	D;D	0.89917	0.991;1.0	P;D	0.91635	0.874;0.999	T	0.59563	-0.7431	10	0.66056	D	0.02	.	12.1018	0.53788	0.0:0.8139:0.1201:0.0659	.	828;828	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	E	828	ENSP00000340594:G828E	ENSP00000340594:G828E	G	-	2	0	SYDE2	85420430	0.998000	0.40836	0.992000	0.48379	0.806000	0.45545	3.790000	0.55461	1.461000	0.47929	-0.175000	0.13238	GGA		0.348	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			3	16	0	0	0	0	3	16				
COL11A1	1301	broad.mit.edu	37	1	103354187	103354187	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103354187C>A	ENST00000370096.3	-	62	4867		c.e62-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGCGGGTCCCTGTTAGAAAG	0.423																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.e62-1		alpha 1 type XI collagen isoform A							67.0	69.0	68.0					1																	103354187		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103354187C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4555-1G>T	1.37:g.103354187C>A						COL11A1_uc001duk.2_Splice_Site_p.G715_splice|COL11A1_uc001dum.2_Splice_Site_p.G1531_splice|COL11A1_uc001dun.2_Splice_Site_p.G1480_splice|COL11A1_uc009weh.2_Splice_Site_p.G1403_splice	p.G1519_splice	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	62	4873	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.4555_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549615	0.86127	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103126775	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.487000	0.81328	2.680000	0.91292	0.655000	0.94253	.		0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	14	41	1	0	1.36e-06	1.61e-06	14	41				
COL11A1	1301	broad.mit.edu	37	1	103471395	103471395	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:103471395C>A	ENST00000370096.3	-	18	2156	c.1844G>T	c.(1843-1845)aGg>aTg	p.R615M	COL11A1_ENST00000512756.1_Splice_Site_p.R499M|COL11A1_ENST00000353414.4_Splice_Site_p.R576M|COL11A1_ENST00000358392.2_Splice_Site_p.R627M|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	615	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1843-1845)AGG>ATG		alpha 1 type XI collagen isoform A							89.0	97.0	94.0					1																	103471395		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471395C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1845+1G>T	1.37:g.103471395C>A						COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.R627M|COL11A1_uc001dun.2_Missense_Mutation_p.R576M|COL11A1_uc009weh.2_Missense_Mutation_p.R499M	p.R615M	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	18	2162	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	615			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1844G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196348	0.94960	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.69	5.69	0.88448	.	0.050525	0.85682	D	0.000000	D	0.96586	0.8886	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.998	D	0.96257	0.9188	10	0.62326	D	0.03	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	499;576;627;615	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	M	615;627;576;499	ENSP00000359114:R615M;ENSP00000351163:R627M;ENSP00000302551:R576M;ENSP00000426533:R499M	ENSP00000302551:R576M	R	-	2	0	COL11A1	103243983	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.656000	0.67988	2.700000	0.92200	0.650000	0.86243	AGG		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	26	64	1	0	2.13e-12	2.83e-12	26	64				
KCNT2	343450	broad.mit.edu	37	1	196295982	196295982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:196295982T>C	ENST00000294725.9	-	19	3056	c.2141A>G	c.(2140-2142)tAt>tGt	p.Y714C	KCNT2_ENST00000609185.1_Missense_Mutation_p.Y664C|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y664C|KCNT2_ENST00000451324.2_Missense_Mutation_p.Y325C|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.Y714C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	714					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTGAATCCATAGGCTTTTGC	0.318																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2140-2142)TAT>TGT		potassium channel, subfamily T, member 2							94.0	98.0	97.0					1																	196295982		2203	4293	6496	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196295982T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2141A>G	1.37:g.196295982T>C	ENSP00000294725:p.Tyr714Cys					KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.Y664C|KCNT2_uc001gtf.1_Missense_Mutation_p.Y714C|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.Y714C|KCNT2_uc001gth.1_Missense_Mutation_p.Y235C	p.Y714C	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			19	2201	-			714			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2141A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131259	0.77549	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000029	D	0.89694	0.6789	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;1.0;1.0;0.995	D	0.91286	0.5055	10	0.59425	D	0.04	-20.2274	15.7605	0.78076	0.0:0.0:0.0:1.0	.	714;696;714;664;714	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	C	714;664;325;714	ENSP00000356403:Y714C;ENSP00000356401:Y664C;ENSP00000405474:Y325C;ENSP00000294725:Y714C	ENSP00000294725:Y714C	Y	-	2	0	KCNT2	194562605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.171000	0.68590	0.528000	0.53228	TAT		0.318	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		22	55	0	0	0	0	22	55				
TGFB2	7042	broad.mit.edu	37	1	218614596	218614596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:218614596C>A	ENST00000366930.4	+	7	1604	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Nonsense_Mutation_p.C407*	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTCTCCTTGCTGCGTGTCCC	0.403																																						uc001hlm.2		NA																	0					0						c.(1135-1137)TGC>TGA		transforming growth factor, beta 2 isoform 2							122.0	122.0	122.0					1																	218614596		2203	4300	6503	SO:0001587	stop_gained	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218614596C>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1137C>A	1.37:g.218614596C>A	ENSP00000355897:p.Cys379*					TGFB2_uc001hln.2_Nonsense_Mutation_p.C407*|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.C379*	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	7	1790	+			379					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Nonsense_Mutation	SNP	ENST00000366930.4	37	c.1137C>A	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	41	8.756764	0.98941	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	.	.	.	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1192	0.48279	0.0:0.8601:0.0:0.1399	.	.	.	.	X	379;407	.	ENSP00000355896:C407X	C	+	3	2	TGFB2	216681219	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.216000	0.51176	1.505000	0.48720	0.655000	0.94253	TGC		0.403	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		28	59	1	0	4.88e-14	6.59e-14	28	59				
RYR2	6262	broad.mit.edu	37	1	237838057	237838057	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:237838057C>A	ENST00000366574.2	+	60	9058	c.8741C>A	c.(8740-8742)aCg>aAg	p.T2914K	RYR2_ENST00000360064.6_Missense_Mutation_p.T2912K|RYR2_ENST00000542537.1_Missense_Mutation_p.T2898K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2914	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTGGACACGCCTTCTATT	0.408																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8740-8742)ACG>AAG		cardiac muscle ryanodine receptor							97.0	90.0	92.0					1																	237838057		1860	4099	5959	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237838057C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8741C>A	1.37:g.237838057C>A	ENSP00000355533:p.Thr2914Lys					RYR2_uc010pxz.1_5'UTR	p.T2914K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		60	8861	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2914			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8741C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607259	0.46527	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.96459	-0.25;-4.02;-0.25	4.76	4.76	0.60689	.	0.083384	0.45126	U	0.000396	D	0.94046	0.8092	L	0.46157	1.445	0.80722	D	1	B	0.18166	0.026	B	0.11329	0.006	D	0.91400	0.5142	10	0.27785	T	0.31	.	18.1142	0.89545	0.0:1.0:0.0:0.0	.	2914	Q92736	RYR2_HUMAN	K	2914;2912;2898	ENSP00000355533:T2914K;ENSP00000353174:T2912K;ENSP00000443798:T2898K	ENSP00000353174:T2912K	T	+	2	0	RYR2	235904680	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	4.528000	0.60580	2.342000	0.79632	0.460000	0.39030	ACG		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	16	1	0	0.00116845	0.00125704	5	16				
PROSER2	254427	broad.mit.edu	37	10	11911812	11911812	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:11911812G>T	ENST00000277570.5	+	4	869	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.G43C	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	239	Pro-rich.																TGGAGACCCTGGCCCGGGGCC	0.766																																						uc001ikx.2		NA																	0				central_nervous_system(1)	1						c.(715-717)GGC>TGC		hypothetical protein LOC254427							3.0	4.0	4.0					10																	11911812		1810	3697	5507	SO:0001583	missense	254427							g.chr10:11911812G>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.715G>T	10.37:g.11911812G>T	ENSP00000277570:p.Gly239Cys					uc001iky.1_Intron	p.G239C	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN			4	869	+			239			Pro-rich.		D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.715G>T	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687722	0.29962	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202;ENST00000379200	T;T	0.07688	3.17;3.17	4.89	-6.46	0.01908	.	1.793160	0.02793	N	0.122301	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	10	0.87932	D	0	0.6523	6.5242	0.22293	0.0:0.2712:0.355:0.3738	.	239	Q86WR7	CJ047_HUMAN	C	239;239;239;43	ENSP00000277570:G239C;ENSP00000368498:G43C	ENSP00000277570:G239C	G	+	1	0	C10orf47	11951818	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.123000	0.15708	-1.750000	0.01328	0.305000	0.20034	GGC		0.766	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		9	14	1	0	3.1e-07	3.71e-07	9	14				
HSPA14	51182	broad.mit.edu	37	10	14894529	14894529	+	Splice_Site	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:14894529A>T	ENST00000378372.3	+	8	972	c.733A>T	c.(733-735)Aga>Tga	p.R245*		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	245					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGAGTTCCAAAGGTGAGTGTT	0.358																																						uc001inf.2		NA																	0				ovary(2)|breast(2)|lung(1)	5						c.(733-735)AGA>TGA		heat shock 70kDa protein 14 isoform 1							152.0	141.0	145.0					10																	14894529		2203	4300	6503	SO:0001630	splice_region_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14894529A>T	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.734+1A>T	10.37:g.14894529A>T							p.R245*	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN			8	874	+			245					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Nonsense_Mutation	SNP	ENST00000378372.3	37	c.733A>T	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	A	36	5.969929	0.97156	.	.	ENSG00000187522	ENST00000378372	.	.	.	5.54	4.39	0.52855	.	0.048381	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7605	12.7262	0.57173	0.8623:0.1376:0.0:0.0	.	.	.	.	X	245	.	ENSP00000367623:R245X	R	+	1	2	HSPA14	14934535	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	5.518000	0.67068	0.931000	0.37242	0.533000	0.62120	AGA		0.358	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299	Nonsense_Mutation	30	61	0	0	0	0	30	61				
SLC39A12	221074	broad.mit.edu	37	10	18331685	18331685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:18331685C>A	ENST00000377369.2	+	13	2272	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SLC39A12_ENST00000539911.1_Missense_Mutation_p.L533M|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L666M|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L630M	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGTTTCTCCTGCAAAACTT	0.353																																						uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1999-2001)CTG>ATG		solute carrier family 39 (zinc transporter),							116.0	110.0	112.0					10																	18331685		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18331685C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1999C>A	10.37:g.18331685C>A	ENSP00000366586:p.Leu667Met					SLC39A12_uc001ipn.2_Missense_Mutation_p.L630M|SLC39A12_uc001ipp.2_Missense_Mutation_p.L666M|SLC39A12_uc010qck.1_Missense_Mutation_p.L533M	p.L667M	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			13	2272	+			667			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1999C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564227	0.65651	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.02	4.15	0.48705	.	0.068285	0.64402	D	0.000011	T	0.69842	0.3156	M	0.76328	2.33	0.50039	D	0.99984	D;P;D	0.76494	0.999;0.94;0.999	D;D;D	0.74348	0.983;0.958;0.983	T	0.73294	-0.4028	10	0.59425	D	0.04	-0.5402	12.5825	0.56397	0.0:0.8654:0.0:0.1346	.	666;667;630	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	M	667;630;666;533;587	ENSP00000366586:L667M;ENSP00000366591:L630M;ENSP00000366588:L666M;ENSP00000440445:L533M	ENSP00000366586:L667M	L	+	1	2	SLC39A12	18371691	0.995000	0.38212	1.000000	0.80357	0.803000	0.45373	1.416000	0.34759	1.537000	0.49254	0.655000	0.94253	CTG		0.353	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		16	61	1	0	6.94e-10	8.89e-10	16	61				
RASGEF1A	221002	broad.mit.edu	37	10	43691705	43691705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:43691705A>T	ENST00000395809.1	-	13	3939	c.1433T>A	c.(1432-1434)cTg>cAg	p.L478Q	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.L478Q|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.L486Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	478					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCTCTGTTCAGAAGGGTGGT	0.597																																						uc001jap.1		NA																	0					0						c.(1432-1434)CTG>CAG		RasGEF domain family, member 1A							72.0	71.0	71.0					10																	43691705		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43691705A>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1433T>A	10.37:g.43691705A>T	ENSP00000379154:p.Leu478Gln					RASGEF1A_uc001jao.1_Missense_Mutation_p.L486Q	p.L478Q	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			13	1514	-			478					Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1433T>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006221	0.74932	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.74421	-0.84;-0.81;-0.81	5.1	3.93	0.45458	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.56097	D	0.000021	T	0.75532	0.3862	L	0.43923	1.385	0.44079	D	0.996832	P;D	0.53312	0.87;0.959	B;P	0.54346	0.411;0.749	T	0.76591	-0.2903	10	0.87932	D	0	.	11.3386	0.49520	0.8637:0.0:0.0:0.1363	.	478;486	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	Q	486;478;478	ENSP00000363583:L486Q;ENSP00000379155:L478Q;ENSP00000379154:L478Q	ENSP00000363583:L486Q	L	-	2	0	RASGEF1A	43011711	1.000000	0.71417	0.865000	0.33974	0.893000	0.52053	6.689000	0.74562	0.840000	0.34995	0.533000	0.62120	CTG		0.597	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		27	66	0	0	0	0	27	66				
RHOBTB1	9886	broad.mit.edu	37	10	62648784	62648784	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:62648784C>T	ENST00000337910.5	-	6	979	c.642G>A	c.(640-642)ctG>ctA	p.L214L	RHOBTB1_ENST00000357917.4_Silent_p.L214L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	214					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCAGAATTGCAGGTGCCTGC	0.473																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(640-642)CTG>CTA		Rho-related BTB domain containing 1							169.0	180.0	176.0					10																	62648784		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648784C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.642G>A	10.37:g.62648784C>T						RHOBTB1_uc001jlh.2_Silent_p.L214L|RHOBTB1_uc001jlj.2_Silent_p.L214L|RHOBTB1_uc001jlk.2_Silent_p.L214L|RHOBTB1_uc009xpe.1_Silent_p.L152L|RHOBTB1_uc001jll.2_5'UTR	p.L214L	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1080	-	Prostate(12;0.0112)		214						Silent	SNP	ENST00000337910.5	37	c.642G>A	CCDS7261.1																																																																																				0.473	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			64	229	0	0	0	0	64	229				
SFTPA2	729238	broad.mit.edu	37	10	81319105	81319105	+	Missense_Mutation	SNP	G	G	T	rs370764679		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:81319105G>T	ENST00000372325.2	-	3	219	c.135C>A	c.(133-135)gaC>gaA	p.D45E	SFTPA2_ENST00000372327.5_Missense_Mutation_p.D45E	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	45	Collagen-like.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.D45D(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CATCTCTCCCGTCCCTGCCTG	0.622									Pulmonary Fibrosis, Idiopathic																													uc001kal.3		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(133-135)GAC>GAA		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							128.0	120.0	123.0					10																	81319105		2203	4295	6498	SO:0001583	missense	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81319105G>T		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.135C>A	10.37:g.81319105G>T	ENSP00000361400:p.Asp45Glu					SFTPA2_uc001kan.3_Missense_Mutation_p.D45E|SFTPA2_uc001kam.2_RNA	p.D45E	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	232	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		45			Collagen-like.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.135C>A	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	15.37	2.814582	0.50527	.	.	ENSG00000185303	ENST00000372325;ENST00000372327;ENST00000417041	T;T;D	0.83673	2.14;2.14;-1.75	2.91	0.271	0.15640	.	0.000000	0.56097	D	0.000027	D	0.89522	0.6739	M	0.89715	3.055	0.27232	N	0.959387	D	0.89917	1.0	D	0.87578	0.998	T	0.79645	-0.1717	10	0.41790	T	0.15	-13.5016	5.3242	0.15896	0.5513:0.0:0.4487:0.0	.	45	E3VLC8	.	E	45	ENSP00000361400:D45E;ENSP00000361402:D45E;ENSP00000397375:D45E	ENSP00000361400:D45E	D	-	3	2	SFTPA2	80989111	0.997000	0.39634	0.998000	0.56505	0.710000	0.40934	0.063000	0.14410	0.174000	0.19809	-0.634000	0.03986	GAC		0.622	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		28	142	1	0	2.68e-12	3.57e-12	28	142				
PNLIPRP1	5407	broad.mit.edu	37	10	118357567	118357567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:118357567A>G	ENST00000528052.1	+	8	774	c.703A>G	c.(703-705)Acg>Gcg	p.T235A	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.T235A|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.T235A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	235					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGTTTTGGAACGAACCAACA	0.463																																						uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(703-705)ACG>GCG		pancreatic lipase-related protein 1 precursor							114.0	104.0	108.0					10																	118357567		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357567A>G	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.703A>G	10.37:g.118357567A>G	ENSP00000433933:p.Thr235Ala					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.T235A	p.T235A	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	8	721	+			235					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.703A>G	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.239277	0.39598	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000527980;ENST00000534537	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.2	2.71	0.32032	Lipase, N-terminal (1);	0.485175	0.21752	N	0.069660	D	0.88160	0.6362	M	0.69823	2.125	0.26947	N	0.966129	B	0.22003	0.063	B	0.29598	0.104	T	0.80948	-0.1154	10	0.66056	D	0.02	-1.1166	4.9954	0.14235	0.6346:0.0:0.0794:0.2861	.	235	P54315	LIPR1_HUMAN	A	235;235;162;235	ENSP00000351695:T235A;ENSP00000433933:T235A;ENSP00000433785:T162A;ENSP00000434159:T235A	ENSP00000351695:T235A	T	+	1	0	PNLIPRP1	118347557	0.533000	0.26354	0.265000	0.24526	0.486000	0.33341	3.174000	0.50847	0.315000	0.23110	0.533000	0.62120	ACG		0.463	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		23	15	0	0	0	0	23	15				
TUBGCP2	10844	broad.mit.edu	37	10	135099030	135099030	+	Missense_Mutation	SNP	C	C	T	rs142228780		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr10:135099030C>T	ENST00000252936.3	-	11	1864	c.1825G>A	c.(1825-1827)Gcg>Acg	p.A609T	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A202T|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A637T|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.A609T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A479T			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	609					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCGCTCAGCGCCAGCTCCGTG	0.642													T|||	1	0.000199681	0.0	0.0014	5008	,	,		16491	0.0		0.0	False		,,,				2504	0.0					uc001lmg.1		NA																	0					0						c.(1825-1827)GCG>ACG		tubulin, gamma complex associated protein 2		T	THR/ALA	2,4404	820.5+/-416.4	0,2,2201	40.0	42.0	41.0		1825	1.9	0.7	10	dbSNP_134	41	27,8573	815.3+/-407.0	0,27,4273	yes	missense	TUBGCP2	NM_006659.2	58	0,29,6474	TT,TC,CC		0.314,0.0454,0.223	benign	609/903	135099030	29,12977	2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135099030C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1825G>A	10.37:g.135099030C>T	ENSP00000252936:p.Ala609Thr					TUBGCP2_uc001lmf.1_Missense_Mutation_p.A202T|TUBGCP2_uc010qvc.1_Missense_Mutation_p.A637T|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Missense_Mutation_p.A479T|TUBGCP2_uc001lmh.1_RNA	p.A609T	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	12	2182	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	609					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1825G>A	CCDS7676.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	7.440	0.640449	0.14386	4.54E-4	0.00314	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	5.64	1.87	0.25490	.	0.242256	0.42548	N	0.000695	T	0.04318	0.0119	N	0.22421	0.69	0.21950	N	0.999457	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.44907	-0.9297	10	0.15499	T	0.54	-17.0725	4.0029	0.09588	0.3768:0.1373:0.0:0.4858	.	637;609	F5H4L0;Q9BSJ2	.;GCP2_HUMAN	T	609;479;609;202;637	ENSP00000252936:A609T;ENSP00000395666:A479T;ENSP00000357551:A609T;ENSP00000357550:A202T;ENSP00000446093:A637T	ENSP00000252936:A609T	A	-	1	0	TUBGCP2	134949020	1.000000	0.71417	0.714000	0.30535	0.620000	0.37586	0.436000	0.21526	-0.099000	0.12263	-1.180000	0.01717	GCG		0.642	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			20	19	0	0	0	0	20	19				
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:5758676C>T	ENST00000317121.3	+	1	996	c.930C>T	c.(928-930)gcC>gcT	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418																																						uc001mbt.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(928-930)GCC>GCT		olfactory receptor, family 56, subfamily B,							166.0	159.0	161.0					11																	5758676		2201	4297	6498	SO:0001819	synonymous_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758676C>T	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.930C>T	11.37:g.5758676C>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.A310A	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	930	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	310			Cytoplasmic (Potential).		B2RNY6|B3KV42|Q6IF76	Silent	SNP	ENST00000317121.3	37	c.930C>T	CCDS31395.1																																																																																				0.418	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		44	107	0	0	0	0	44	107				
OR56A1	120796	broad.mit.edu	37	11	6048915	6048915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:6048915G>T	ENST00000316650.5	-	1	56	c.20C>A	c.(19-21)tCa>tAa	p.S7*		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCTGGGTGACGCCATAGG	0.488																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(19-21)TCA>TAA		olfactory receptor, family 56, subfamily A,							119.0	120.0	120.0					11																	6048915		2201	4296	6497	SO:0001587	stop_gained	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048915G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.20C>A	11.37:g.6048915G>T	ENSP00000321246:p.Ser7*						p.S7*	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	20	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	7			Extracellular (Potential).		B2RNI2|Q6IFL0	Nonsense_Mutation	SNP	ENST00000316650.5	37	c.20C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492256	0.64074	.	.	ENSG00000180934	ENST00000316650	.	.	.	3.83	-0.298	0.12814	.	0.457743	0.16066	U	0.231250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6905	0.23169	0.4388:0.0:0.5612:0.0	.	.	.	.	X	7	.	ENSP00000321246:S7X	S	-	2	0	OR56A1	6005491	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-1.034000	0.03567	-0.152000	0.11156	0.563000	0.77884	TCA		0.488	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		38	101	1	0	1.47e-15	2.03e-15	38	101				
SLC5A12	159963	broad.mit.edu	37	11	26725200	26725200	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:26725200G>A	ENST00000396005.3	-	6	1008	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SLC5A12_ENST00000280467.6_Silent_p.L233L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	233					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGTGTCGCCTGAGAGGATCTA	0.403																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(697-699)CTC>CTT		solute carrier family 5 (sodium/glucose							123.0	119.0	120.0					11																	26725200		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725200G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.699C>T	11.37:g.26725200G>A						SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Silent_p.L233L	p.L233L	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			6	1012	-			233			Extracellular (Potential).		Q86UC7	Silent	SNP	ENST00000396005.3	37	c.699C>T	CCDS7860.2																																																																																				0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		29	49	0	0	0	0	29	49				
LRRC4C	57689	broad.mit.edu	37	11	40136945	40136945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:40136945G>C	ENST00000278198.2	-	2	2861	c.898C>G	c.(898-900)Cac>Gac	p.H300D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	300					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAGGGTTGTGATGTAAATGT	0.478																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(898-900)CAC>GAC		netrin-G1 ligand precursor							178.0	146.0	157.0					11																	40136945		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136945G>C	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.898C>G	11.37:g.40136945G>C	ENSP00000278198:p.His300Asp					LRRC4C_uc001mxc.1_Missense_Mutation_p.H296D|LRRC4C_uc001mxd.1_Missense_Mutation_p.H296D|LRRC4C_uc001mxb.1_Missense_Mutation_p.H296D	p.H300D	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2862	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	300					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.898C>G	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353680	0.61293	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.53549	0.729	T	0.32508	-0.9904	10	0.07482	T	0.82	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	300	Q9HCJ2	LRC4C_HUMAN	D	300	ENSP00000278198:H300D;ENSP00000436976:H300D;ENSP00000437132:H300D;ENSP00000434761:H300D	ENSP00000278198:H300D	H	-	1	0	LRRC4C	40093521	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CAC		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		32	62	0	0	0	0	32	62				
PRDM11	56981	broad.mit.edu	37	11	45241231	45241231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:45241231G>A	ENST00000530656.1	+	6	767	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	PRDM11_ENST00000424263.2_Missense_Mutation_p.R222Q|PRDM11_ENST00000263765.4_Missense_Mutation_p.R256Q|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGTGGCTGCGGGTCTGGTAC	0.622																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(766-768)CGG>CAG		PR domain containing 11							69.0	54.0	59.0					11																	45241231		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45241231G>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.767G>A	11.37:g.45241231G>A	ENSP00000435976:p.Arg256Gln						p.R256Q	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			7	1016	+			256			SET.		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.168989	0.94768	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	D;D;D	0.89196	-2.48;-2.48;-2.48	5.78	5.78	0.91487	SET domain (2);	0.000000	0.64402	D	0.000011	D	0.93161	0.7822	M	0.64170	1.965	0.40740	D	0.982823	D	0.89917	1.0	P	0.62298	0.9	D	0.92571	0.6066	10	0.46703	T	0.11	-30.505	20.016	0.97477	0.0:0.0:1.0:0.0	.	256	Q9NQV5	PRD11_HUMAN	Q	256;256;222	ENSP00000263765:R256Q;ENSP00000435976:R256Q;ENSP00000394314:R222Q	ENSP00000263765:R256Q	R	+	2	0	PRDM11	45197807	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.492000	0.81482	2.732000	0.93576	0.643000	0.83706	CGG		0.622	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		11	29	0	0	0	0	11	29				
OR4A15	81328	broad.mit.edu	37	11	55136211	55136211	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:55136211C>A	ENST00000314706.3	+	1	852	c.852C>A	c.(850-852)ttC>ttA	p.F284L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGTATCTTCTTGTATGCAA	0.408																																						uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(850-852)TTC>TTA		olfactory receptor, family 4, subfamily A,							265.0	254.0	257.0					11																	55136211		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136211C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.852C>A	11.37:g.55136211C>A	ENSP00000325065:p.Phe284Leu						p.F284L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	852	+			284			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.852C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	13.24	2.176673	0.38413	.	.	ENSG00000181958	ENST00000314706	T	0.00241	8.46	3.65	-7.29	0.01451	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.00241	0.0007	L	0.53780	1.695	0.09310	N	1	B	0.33212	0.402	P	0.44772	0.46	T	0.21314	-1.0249	10	0.72032	D	0.01	.	14.702	0.69162	0.0:0.6347:0.0:0.3653	.	284	Q8NGL6	O4A15_HUMAN	L	284	ENSP00000325065:F284L	ENSP00000325065:F284L	F	+	3	2	OR4A15	54892787	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-2.107000	0.01337	-2.148000	0.00798	-0.387000	0.06579	TTC		0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		51	214	1	0	5.39e-20	7.63e-20	51	214				
POLA2	23649	broad.mit.edu	37	11	65048604	65048604	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:65048604C>G	ENST00000265465.3	+	8	1417	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	POLA2_ENST00000541089.1_Missense_Mutation_p.L88V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	296					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGAATATTCTCTGTTTCCTGG	0.517																																						uc001odj.2		NA																	0					0						c.(886-888)CTG>GTG		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						136.0	133.0	134.0					11																	65048604		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65048604C>G	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.886C>G	11.37:g.65048604C>G	ENSP00000265465:p.Leu296Val					POLA2_uc010rod.1_Missense_Mutation_p.L88V|POLA2_uc001odk.2_5'UTR	p.L296V	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			8	1228	+			296					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.886C>G	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580047	0.65992	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T	0.32753	1.44	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	M	0.63208	1.945	0.80722	D	1	B;B	0.31752	0.338;0.215	B;B	0.38156	0.266;0.079	T	0.25779	-1.0122	10	0.51188	T	0.08	-12.0888	16.5719	0.84615	0.0:1.0:0.0:0.0	.	88;296	B4DNB4;Q14181	.;DPOA2_HUMAN	V	296;88	ENSP00000265465:L296V	ENSP00000265465:L296V	L	+	1	2	POLA2	64805180	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.696000	0.47052	2.522000	0.85027	0.555000	0.69702	CTG		0.517	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		36	122	0	0	0	0	36	122				
ADRBK1	156	broad.mit.edu	37	11	67051732	67051732	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:67051732G>A	ENST00000308595.5	+	18	1832	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	514	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCACCATCTCGGAGCGGTGGC	0.592																																						uc009yrn.1		NA																	0				large_intestine(1)	1						c.(1540-1542)TCG>TCA		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						105.0	90.0	95.0					11																	67051732		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051732G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1542G>A	11.37:g.67051732G>A						ADRBK1_uc009yrm.1_Intron	p.S514S	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		18	1808	+			514			AGC-kinase C-terminal.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1542G>A	CCDS8156.1																																																																																				0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		49	78	0	0	0	0	49	78				
NCAM1	4684	broad.mit.edu	37	11	113076802	113076802	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113076802C>A	ENST00000533760.1	+	5	773	c.174C>A	c.(172-174)atC>atA	p.I58I	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.I175I|NCAM1_ENST00000316851.7_Silent_p.I166I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	176	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACCTGCAGATCCGGGGCATCA	0.507																																						uc009yyq.1		NA																	0				ovary(1)	1						c.(172-174)ATC>ATA		neural cell adhesion molecule 1 isoform 3							132.0	133.0	133.0					11																	113076802		1991	4156	6147	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076802C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.174C>A	11.37:g.113076802C>A						NCAM1_uc001pno.2_Silent_p.I58I	p.I58I	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	5	868	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	176			Ig-like C2-type 2.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.174C>A																																																																																					0.507	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		25	153	1	0	5.35e-11	7.01e-11	25	153				
ZW10	9183	broad.mit.edu	37	11	113639651	113639651	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:113639651T>A	ENST00000200135.3	-	2	288	c.144A>T	c.(142-144)gaA>gaT	p.E48D	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	48	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGGCAGGAATTCACTGTACT	0.403																																						uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(142-144)GAA>GAT		centromere/kinetochore protein zw10							149.0	141.0	144.0					11																	113639651		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113639651T>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.144A>T	11.37:g.113639651T>A	ENSP00000200135:p.Glu48Asp					ZW10_uc009yyv.2_RNA	p.E48D	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	2	181	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	48			Interaction with RINT1.|Interaction with ZWINT.|Potential.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.144A>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253066	0.39797	.	.	ENSG00000086827	ENST00000200135	T	0.39592	1.07	4.98	-0.603	0.11630	.	0.108227	0.64402	D	0.000008	T	0.27559	0.0677	L	0.36672	1.1	0.44843	D	0.997858	B	0.27380	0.177	B	0.31869	0.137	T	0.09207	-1.0685	10	0.08837	T	0.75	-17.4578	10.121	0.42621	0.0:0.4689:0.0:0.5311	.	48	O43264	ZW10_HUMAN	D	48	ENSP00000200135:E48D	ENSP00000200135:E48D	E	-	3	2	ZW10	113144861	0.645000	0.27286	0.999000	0.59377	0.997000	0.91878	-0.285000	0.08410	0.001000	0.14605	0.460000	0.39030	GAA		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		62	66	0	0	0	0	62	66				
CEP164	22897	broad.mit.edu	37	11	117282544	117282544	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:117282544G>A	ENST00000278935.3	+	32	4344	c.4197G>A	c.(4195-4197)tcG>tcA	p.S1399S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1399					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCCCATTCGCAAGTCCCTG	0.582																																						uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4195-4197)TCG>TCA		centrosomal protein 164kDa							74.0	72.0	73.0					11																	117282544		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282544G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4197G>A	11.37:g.117282544G>A						CEP164_uc001prb.2_Silent_p.S1394S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.S1399S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	32	4344	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1399					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.4197G>A	CCDS31683.1																																																																																				0.582	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		5	120	0	0	0	0	5	120				
NTM	50863	broad.mit.edu	37	11	132016264	132016264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:132016264C>T	ENST00000374786.1	+	2	735	c.256C>T	c.(256-258)Cct>Tct	p.P86S	NTM_ENST00000425719.2_Missense_Mutation_p.P86S|NTM_ENST00000539799.1_Missense_Mutation_p.P86S|NTM_ENST00000374784.1_Missense_Mutation_p.P86S|NTM_ENST00000427481.2_Missense_Mutation_p.P77S|NTM_ENST00000374791.3_Missense_Mutation_p.P86S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	86	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTGCCTGGATCCTCGCGTGGT	0.572																																						uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(256-258)CCT>TCT		neurotrimin isoform 1							187.0	135.0	153.0					11																	132016264		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016264C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.256C>T	11.37:g.132016264C>T	ENSP00000363918:p.Pro86Ser					NTM_uc001qgm.2_Missense_Mutation_p.P86S|NTM_uc010sch.1_Missense_Mutation_p.P77S|NTM_uc010sci.1_Missense_Mutation_p.P86S|NTM_uc010scj.1_Missense_Mutation_p.P45S|NTM_uc001qgo.2_Missense_Mutation_p.P86S|NTM_uc001qgq.2_Missense_Mutation_p.P86S	p.P86S	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	920	+			86			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.256C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043160	0.93685	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	L	0.42686	1.345	0.80722	D	1	P;P;B;P;P;B	0.50156	0.932;0.87;0.25;0.87;0.843;0.25	P;P;P;P;P;P	0.55508	0.777;0.718;0.477;0.718;0.499;0.477	T	0.01591	-1.1317	10	0.36615	T	0.2	-12.8636	19.819	0.96583	0.0:1.0:0.0:0.0	.	86;77;86;86;86;86	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	S	86;86;77;77;86;86;86	ENSP00000363923:P86S;ENSP00000437668:P86S;ENSP00000448104:P77S;ENSP00000416320:P77S;ENSP00000363918:P86S;ENSP00000396722:P86S;ENSP00000363916:P86S	ENSP00000363916:P86S	P	+	1	0	NTM	131521474	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.072000	0.71238	2.691000	0.91804	0.655000	0.94253	CCT		0.572	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		21	71	0	0	0	0	21	71				
DYRK4	8798	broad.mit.edu	37	12	4721873	4721873	+	Missense_Mutation	SNP	C	C	G	rs141423818	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:4721873C>G	ENST00000540757.2	+	12	1470	c.1310C>G	c.(1309-1311)tCg>tGg	p.S437W	DYRK4_ENST00000545342.1_Missense_Mutation_p.S74W|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Missense_Mutation_p.S437W|DYRK4_ENST00000010132.5_Missense_Mutation_p.S437W	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	437						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468																																						uc001qmx.2		NA																	0				lung(2)|skin(1)	3						c.(1309-1311)TCG>TGG		dual-specificity tyrosine-(Y)-phosphorylation							89.0	81.0	84.0					12																	4721873		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721873C>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1310C>G	12.37:g.4721873C>G	ENSP00000441755:p.Ser437Trp					DYRK4_uc009zeh.1_Missense_Mutation_p.S552W|DYRK4_uc001qmy.1_Missense_Mutation_p.S437W|DYRK4_uc001qmz.1_Missense_Mutation_p.S151W|DYRK4_uc001qna.1_Missense_Mutation_p.S74W|DYRK4_uc010ser.1_Missense_Mutation_p.S74W	p.S437W	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		12	1470	+			437					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1310C>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010480	0.19277	.	.	ENSG00000010219	ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	T;T;T;T	0.65178	-0.14;-0.14;-0.13;0.79	4.59	-1.29	0.09288	.	2.530530	0.01372	N	0.012616	T	0.66577	0.2803	L	0.38175	1.15	0.09310	N	1	D;D;D	0.63046	0.992;0.987;0.979	P;P;P	0.58172	0.764;0.834;0.59	T	0.56829	-0.7914	10	0.66056	D	0.02	.	8.2723	0.31851	0.0:0.6347:0.1611:0.2042	.	151;437;437	B4E1A4;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	W	437;437;437;74	ENSP00000441755:S437W;ENSP00000010132:S437W;ENSP00000439697:S437W;ENSP00000446005:S74W	ENSP00000010132:S437W	S	+	2	0	DYRK4	4592134	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.724000	0.04947	-0.307000	0.08804	-0.150000	0.13652	TCG		0.468	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			42	49	0	0	0	0	42	49				
TPI1	7167	broad.mit.edu	37	12	6976735	6976735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6976735C>T	ENST00000229270.4	+	1	453	c.116C>T	c.(115-117)gCg>gTg	p.A39V	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_Missense_Mutation_p.A2V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	39					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGCGCCATGGCGCCCTCCAGG	0.642																																						uc001qrk.2		NA																	0					0						c.(4-6)GCG>GTG		triosephosphate isomerase 1 isoform 1							14.0	17.0	16.0					12																	6976735		2200	4299	6499	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976735C>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.116C>T	12.37:g.6976735C>T	ENSP00000229270:p.Ala39Val					TPI1_uc010sfo.1_5'Flank	p.A2V	NM_000365	NP_000356	P60174	TPIS_HUMAN			1	43	+			2					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.5C>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436244	0.62955	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D	0.93953	-3.32	5.22	5.22	0.72569	Aldolase-type TIM barrel (1);	0.619893	0.14671	U	0.305379	D	0.89448	0.6718	L	0.39898	1.24	0.80722	D	1	B	0.31655	0.334	B	0.27262	0.078	D	0.88264	0.2925	10	0.87932	D	0	.	11.8356	0.52321	0.0:0.9187:0.0:0.0813	.	39	P60174	TPIS_HUMAN	V	39;2	ENSP00000229270:A39V	ENSP00000229270:A39V	A	+	2	0	TPI1	6846996	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	3.295000	0.51794	2.415000	0.81967	0.542000	0.68232	GCG		0.642	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		8	18	0	0	0	0	8	18				
PRB1	5542	broad.mit.edu	37	12	11506584	11506584	+	Intron	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:11506584G>T	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGATCAGGGACTTCGGG	0.612																																						uc001qzw.1		NA																	0					0						c.(451-453)CCC>CCA		proline-rich protein BstNI subfamily 1 isoform 1							12.0	7.0	9.0					12																	11506584		1204	2081	3285	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506584G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+139C>A	12.37:g.11506584G>T						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.P151P	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	490	-			212		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.453C>A	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		142	552	1	0	6.52e-42	9.53e-42	142	552				
ARID2	196528	broad.mit.edu	37	12	46215209	46215209	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:46215209G>T	ENST00000334344.6	+	6	816	c.644G>T	c.(643-645)gGa>gTa	p.G215V	ARID2_ENST00000422737.1_Missense_Mutation_p.G66V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	215					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTAGCTTTAGGATCCTTTTCC	0.254			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(643-645)GGA>GTA		AT rich interactive domain 2 (ARID, RFX-like)							57.0	63.0	61.0					12																	46215209		2203	4288	6491	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46215209G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.644G>T	12.37:g.46215209G>T	ENSP00000335044:p.Gly215Val					ARID2_uc001ror.2_Missense_Mutation_p.G215V	p.G215V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	6	644	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	215					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.644G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683717	0.88639	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T	0.32515	1.45	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47736	-0.9094	10	0.54805	T	0.06	-8.1739	19.8223	0.96603	0.0:0.0:1.0:0.0	.	215	Q68CP9	ARID2_HUMAN	V	215;66	ENSP00000335044:G215V	ENSP00000335044:G215V	G	+	2	0	ARID2	44501476	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.654000	0.91092	2.763000	0.94921	0.555000	0.69702	GGA		0.254	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		13	56	1	0	9.05e-12	1.2e-11	13	56				
SDR9C7	121214	broad.mit.edu	37	12	57323300	57323300	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57323300T>C	ENST00000293502.1	-	3	741	c.598A>G	c.(598-600)Att>Gtt	p.I200V		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	200					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGGCTCAATGATGCAGACT	0.552																																						uc010sqw.1		NA																	0				central_nervous_system(1)	1						c.(598-600)ATT>GTT		short chain dehydrogenase/reductase family 9C,							117.0	106.0	110.0					12																	57323300		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323300T>C	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.598A>G	12.37:g.57323300T>C	ENSP00000293502:p.Ile200Val						p.I200V	NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN			3	598	-			200					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.598A>G	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340308	0.41398	.	.	ENSG00000170426	ENST00000293502	T	0.46819	0.86	5.17	5.17	0.71159	NAD(P)-binding domain (1);	0.085531	0.47093	D	0.000255	T	0.40398	0.1115	L	0.45698	1.435	0.32166	N	0.582254	B	0.20988	0.05	B	0.28916	0.096	T	0.46965	-0.9153	10	0.24483	T	0.36	.	8.932	0.35677	0.0:0.0852:0.0:0.9148	.	200	Q8NEX9	DR9C7_HUMAN	V	200	ENSP00000293502:I200V	ENSP00000293502:I200V	I	-	1	0	SDR9C7	55609567	0.990000	0.36364	1.000000	0.80357	0.970000	0.65996	1.151000	0.31651	2.087000	0.62958	0.533000	0.62120	ATT		0.552	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		31	33	0	0	0	0	31	33				
LRP1	4035	broad.mit.edu	37	12	57550688	57550688	+	Missense_Mutation	SNP	G	G	A	rs373613577		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:57550688G>A	ENST00000243077.3	+	10	2012	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAGTGACGGGAAGTCATG	0.657																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(1546-1548)GGG>AGG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						34.0	33.0	33.0					12																	57550688		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57550688G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1546G>A	12.37:g.57550688G>A	ENSP00000243077:p.Gly516Arg						p.G516R	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	10	2012	+			516			EGF-like 3.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1546G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080690	0.55753	.	.	ENSG00000123384	ENST00000243077	D	0.97772	-4.53	5.12	5.12	0.69794	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98166	0.9394	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96990	0.9721	10	0.17832	T	0.49	.	16.4635	0.84071	0.0:0.0:1.0:0.0	.	516	Q07954	LRP1_HUMAN	R	516	ENSP00000243077:G516R	ENSP00000243077:G516R	G	+	1	0	LRP1	55836955	1.000000	0.71417	0.967000	0.41034	0.517000	0.34286	9.575000	0.98187	2.837000	0.97791	0.591000	0.81541	GGG		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	10	0	0	0	0	3	10				
RBM19	9904	broad.mit.edu	37	12	114261056	114261056	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:114261056G>A	ENST00000545145.2	-	24	2934	c.2856C>T	c.(2854-2856)gaC>gaT	p.D952D	RBM19_ENST00000392561.3_Silent_p.D952D|RBM19_ENST00000261741.5_Silent_p.D952D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	952					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCTCGCTGTCGCTGTCAC	0.637																																						uc009zwi.2		NA																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(2854-2856)GAC>GAT		RNA binding motif protein 19							50.0	44.0	46.0					12																	114261056		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114261056G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2856C>T	12.37:g.114261056G>A						RBM19_uc001tvn.3_Silent_p.D952D|RBM19_uc001tvm.2_Silent_p.D952D	p.D952D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			24	3000	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		952					A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2856C>T	CCDS9172.1																																																																																				0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		16	32	0	0	0	0	16	32				
HCAR3	8843	broad.mit.edu	37	12	123200755	123200755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:123200755C>T	ENST00000528880.2	-	1	684	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	177					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GAAGCTGATGCACACATTTGC	0.537																																						uc001ucy.3		NA																	0				ovary(1)|skin(1)	2						c.(529-531)TGC>TAC		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						95.0	92.0	93.0					12																	123200755		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200755C>T	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.530G>A	12.37:g.123200755C>T	ENSP00000436714:p.Cys177Tyr					GPR81_uc001ucw.1_Intron	p.C177Y	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	685	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		177			Extracellular (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.530G>A	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192849	0.38707	.	.	ENSG00000255398	ENST00000528880	D	0.82081	-1.57	3.41	3.41	0.39046	.	.	.	.	.	D	0.93174	0.7826	H	0.96576	3.845	0.45852	D	0.998711	D	0.89917	1.0	D	0.97110	1.0	D	0.94009	0.7282	9	0.72032	D	0.01	.	10.7313	0.46098	0.0:1.0:0.0:0.0	.	177	E9PI97	.	Y	177	ENSP00000436714:C177Y	ENSP00000436714:C177Y	C	-	2	0	HCAR3	121766708	1.000000	0.71417	0.997000	0.53966	0.115000	0.19883	4.783000	0.62403	1.596000	0.50062	0.184000	0.17185	TGC		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		29	53	0	0	0	0	29	53				
DCLK1	9201	broad.mit.edu	37	13	36700222	36700222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:36700222G>A	ENST00000360631.3	-	2	264	c.53C>T	c.(52-54)gCg>gTg	p.A18V	DCLK1_ENST00000379892.4_Missense_Mutation_p.A18V|DCLK1_ENST00000255448.4_Missense_Mutation_p.A18V			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622																																						uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(52-54)GCG>GTG		doublecortin-like kinase 1							61.0	62.0	62.0					13																	36700222		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700222G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.53C>T	13.37:g.36700222G>A	ENSP00000353846:p.Ala18Val						p.A18V	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	286	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	18					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.53C>T		.	.	.	.	.	.	.	.	.	.	G	15.01	2.706275	0.48412	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.67523	-0.27;-0.27;1.88	5.67	5.67	0.87782	.	0.110579	0.64402	D	0.000012	T	0.56848	0.2013	N	0.22421	0.69	0.50632	D	0.999889	B	0.22346	0.068	B	0.18263	0.021	T	0.51379	-0.8713	10	0.44086	T	0.13	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	18	O15075-2	.	V	18	ENSP00000255448:A18V;ENSP00000353846:A18V;ENSP00000369222:A18V	ENSP00000255448:A18V	A	-	2	0	DCLK1	35598222	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.096000	0.64535	2.675000	0.91044	0.655000	0.94253	GCG		0.622	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		25	41	0	0	0	0	25	41				
SPERT	220082	broad.mit.edu	37	13	46288501	46288501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:46288501G>T	ENST00000310521.1	+	3	1421	c.1341G>T	c.(1339-1341)agG>agT	p.R447S	SPERT_ENST00000378966.3_Missense_Mutation_p.R411S	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	447						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCTAGCAGGGTCTGAGGCC	0.622																																						uc001van.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1339-1341)AGG>AGT		spermatid associated							16.0	14.0	15.0					13																	46288501		2203	4298	6501	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46288501G>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1341G>T	13.37:g.46288501G>T	ENSP00000309189:p.Arg447Ser					SPERT_uc001vao.2_Missense_Mutation_p.R411S	p.R447S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	1421	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	447					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.1341G>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263844	0.59431	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.59638	0.28;0.25	4.93	2.16	0.27623	.	0.000000	0.56097	D	0.000027	T	0.49490	0.1560	N	0.08118	0	0.30512	N	0.769281	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.50742	-0.8792	10	0.87932	D	0	.	3.5955	0.08005	0.0922:0.1658:0.5705:0.1714	.	411;447	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	S	447;411	ENSP00000309189:R447S;ENSP00000368249:R411S	ENSP00000309189:R447S	R	+	3	2	SPERT	45186502	0.998000	0.40836	0.998000	0.56505	0.987000	0.75469	0.630000	0.24553	0.232000	0.21100	0.511000	0.50034	AGG		0.622	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		6	7	1	0	3.6e-05	4.05e-05	6	7				
SLITRK5	26050	broad.mit.edu	37	13	88328994	88328994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:88328994C>A	ENST00000325089.6	+	2	1570	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R210S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	451					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GATCCAGGACCGCGCTTTCGG	0.597																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1351-1353)CGC>AGC		SLIT and NTRK-like family, member 5 precursor							64.0	61.0	62.0					13																	88328994		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328994C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1351C>A	13.37:g.88328994C>A	ENSP00000366283:p.Arg451Ser					SLITRK5_uc010tic.1_Missense_Mutation_p.R210S	p.R451S	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1570	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		451			Extracellular (Potential).|LRR 8.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1351C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158607	0.09236	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.56611	0.45;0.45	5.23	4.38	0.52667	.	0.057059	0.64402	D	0.000002	T	0.35856	0.0946	N	0.12443	0.215	0.45464	D	0.998433	B;B	0.26876	0.06;0.162	B;B	0.32864	0.154;0.154	T	0.11131	-1.0600	9	.	.	.	-9.6572	13.4463	0.61142	0.0:0.827:0.173:0.0	.	210;451	B4DSH5;O94991	.;SLIK5_HUMAN	S	451;210	ENSP00000366283:R451S;ENSP00000442244:R210S	.	R	+	1	0	SLITRK5	87126995	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.017000	0.29989	1.168000	0.42723	-0.311000	0.09066	CGC		0.597	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			35	21	1	0	9.66e-10	1.23e-09	35	21				
GPC5	2262	broad.mit.edu	37	13	92345880	92345880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:92345880G>C	ENST00000377067.3	+	3	1137	c.765G>C	c.(763-765)atG>atC	p.M255I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	255					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCCTGAAGATGCAATACTGCC	0.552																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(763-765)ATG>ATC		glypican 5 precursor							67.0	60.0	63.0					13																	92345880		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345880G>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.765G>C	13.37:g.92345880G>C	ENSP00000366267:p.Met255Ile						p.M255I	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1131	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	255					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.765G>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484980	0.84854	.	.	ENSG00000179399	ENST00000377067	T	0.53423	0.62	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.86864	2.845	0.58432	D	0.999998	D	0.71674	0.998	D	0.77557	0.99	T	0.78578	-0.2150	10	0.72032	D	0.01	.	18.3334	0.90279	0.0:0.0:1.0:0.0	.	255	P78333	GPC5_HUMAN	I	255	ENSP00000366267:M255I	ENSP00000366267:M255I	M	+	3	0	GPC5	91143881	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.869000	0.99810	2.566000	0.86566	0.585000	0.79938	ATG		0.552	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		30	25	0	0	0	0	30	25				
GPC5	2262	broad.mit.edu	37	13	93518663	93518663	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:93518663G>C	ENST00000377067.3	+	8	2062	c.1690G>C	c.(1690-1692)Gtg>Ctg	p.V564L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	564					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTGATAAGTGTGGTGATGTT	0.433																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(1690-1692)GTG>CTG		glypican 5 precursor							390.0	290.0	324.0					13																	93518663		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518663G>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1690G>C	13.37:g.93518663G>C	ENSP00000366267:p.Val564Leu						p.V564L	NM_004466	NP_004457	P78333	GPC5_HUMAN			8	2056	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	564					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1690G>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.902020	0.00517	.	.	ENSG00000179399	ENST00000377067	T	0.47177	0.85	5.81	3.1	0.35709	.	1.137330	0.06842	N	0.795941	T	0.18923	0.0454	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25363	-1.0134	10	0.18710	T	0.47	-26.7625	4.8228	0.13400	0.2332:0.0:0.6088:0.158	.	564	P78333	GPC5_HUMAN	L	564	ENSP00000366267:V564L	ENSP00000366267:V564L	V	+	1	0	GPC5	92316664	0.787000	0.28750	0.002000	0.10522	0.132000	0.20833	0.713000	0.25794	0.341000	0.23771	0.650000	0.86243	GTG		0.433	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		55	31	0	0	0	0	55	31				
FAM155A	728215	broad.mit.edu	37	13	107822853	107822853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr13:107822853C>A	ENST00000375915.2	-	3	1507	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	457						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGTTACTCCTCATTGGTTGAG	0.522																																						uc001vql.2		NA																	0				skin(1)	1						c.(1369-1371)GAG>TAG		family with sequence similarity 155, member A							90.0	81.0	84.0					13																	107822853		2203	4300	6503	SO:0001587	stop_gained	728215					integral to membrane	binding	g.chr13:107822853C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1369G>T	13.37:g.107822853C>A	ENSP00000365080:p.Glu457*						p.E457*	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			3	1885	-			457					B2RUV1|B7Z334	Nonsense_Mutation	SNP	ENST00000375915.2	37	c.1369G>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292420	0.80914	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.55	4.71	0.59529	.	0.106941	0.64402	D	0.000008	.	.	.	.	.	.	0.35640	D	0.810901	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9182	0.63914	0.0:0.9269:0.0:0.0731	.	.	.	.	X	457	.	ENSP00000365080:E457X	E	-	1	0	FAM155A	106620854	1.000000	0.71417	0.975000	0.42487	0.170000	0.22686	5.414000	0.66405	1.372000	0.46190	0.638000	0.83543	GAG		0.522	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		31	19	1	0	2.61e-14	3.54e-14	31	19				
NPAS3	64067	broad.mit.edu	37	14	34243588	34243588	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:34243588C>A	ENST00000356141.4	+	8	898	c.898C>A	c.(898-900)Cac>Aac	p.H300N	NPAS3_ENST00000551492.1_Missense_Mutation_p.H305N|NPAS3_ENST00000357798.5_Missense_Mutation_p.H287N|NPAS3_ENST00000346562.2_Missense_Mutation_p.H268N|NPAS3_ENST00000548645.1_Missense_Mutation_p.H270N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	300					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTCGCTGTCCCACGGGAGGAC	0.498																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(898-900)CAC>AAC		neuronal PAS domain protein 3 isoform 3							142.0	117.0	125.0					14																	34243588		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34243588C>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.898C>A	14.37:g.34243588C>A	ENSP00000348460:p.His300Asn					NPAS3_uc001wrs.2_Missense_Mutation_p.H287N|NPAS3_uc001wrt.2_Missense_Mutation_p.H268N|NPAS3_uc001wrv.2_Missense_Mutation_p.H270N	p.H300N	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	8	962	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		300					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.898C>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940575	0.73557	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.06687	3.53;3.41;3.41;3.41;3.4;3.27	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	L	0.38838	1.175	0.80722	D	1	D;P;D;B	0.55385	0.971;0.95;0.971;0.216	P;P;P;B	0.56042	0.699;0.621;0.79;0.125	T	0.00121	-1.2029	10	0.46703	T	0.11	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	270;300;268;287	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	277;305;268;270;300;287	ENSP00000448373:H277N;ENSP00000450392:H305N;ENSP00000319610:H268N;ENSP00000448916:H270N;ENSP00000348460:H300N;ENSP00000350446:H287N	ENSP00000319610:H268N	H	+	1	0	NPAS3	33313339	1.000000	0.71417	0.973000	0.42090	0.949000	0.60115	7.742000	0.85008	2.739000	0.93911	0.655000	0.94253	CAC		0.498	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			22	73	1	0	1.5e-11	1.97e-11	22	73				
FSCB	84075	broad.mit.edu	37	14	44974135	44974135	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:44974135G>A	ENST00000340446.4	-	1	2347	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	686						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCCTCAGCTGGTAGAGACTGA	0.597																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2056-2058)CCA>TCA		fibrous sheath CABYR binding protein							33.0	40.0	37.0					14																	44974135		2202	4300	6502	SO:0001583	missense	84075					cilium		g.chr14:44974135G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2056C>T	14.37:g.44974135G>A	ENSP00000344579:p.Pro686Ser						p.P686S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2365	-			686					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2056C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	4.688	0.127872	0.08981	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15487	2.42	4.69	-1.69	0.08186	.	.	.	.	.	T	0.11922	0.0290	L	0.42686	1.345	0.09310	N	1	B	0.33044	0.395	B	0.34722	0.188	T	0.35574	-0.9783	9	0.18710	T	0.47	0.3399	5.0363	0.14436	0.4201:0.2734:0.3065:0.0	.	686	Q5H9T9	FSCB_HUMAN	S	686;579	ENSP00000344579:P686S	ENSP00000344579:P686S	P	-	1	0	FSCB	44043885	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.231000	0.09069	-0.436000	0.07254	-0.422000	0.05995	CCA		0.597	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		14	16	0	0	0	0	14	16				
TRIM9	114088	broad.mit.edu	37	14	51464789	51464789	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:51464789G>A	ENST00000298355.3	-	7	2703	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	TRIM9_ENST00000338969.5_Silent_p.L524L|TRIM9_ENST00000360392.4_Silent_p.L528L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	528	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGGAGGACCAGGGTCTTGCTG	0.552																																						uc001wyx.3		NA																	0				skin(2)|lung(1)	3						c.(1582-1584)CTG>TTG		tripartite motif protein 9 isoform 1							131.0	94.0	106.0					14																	51464789		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51464789G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1582C>T	14.37:g.51464789G>A						TRIM9_uc001wyy.2_Silent_p.L524L|TRIM9_uc001wyz.3_Silent_p.L528L	p.L528L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			7	2347	-	all_epithelial(31;0.00418)|Breast(41;0.148)		528			Fibronectin type-III.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.1582C>T	CCDS9703.1																																																																																				0.552	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		13	42	0	0	0	0	13	42				
HIF1A	3091	broad.mit.edu	37	14	62204929	62204929	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:62204929G>A	ENST00000337138.4	+	10	1639	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	HIF1A_ENST00000557538.1_Silent_p.T399T|HIF1A_ENST00000323441.6_Silent_p.T458T|HIF1A_ENST00000539097.1_Silent_p.T482T|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Silent_p.T459T|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	458	ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CCGCTGAAACGCCAAAGCCAC	0.403																																						uc001xfq.2		NA																	0				kidney(3)|lung(1)	4						c.(1372-1374)ACG>ACA		hypoxia-inducible factor 1, alpha subunit							111.0	111.0	111.0					14																	62204929		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62204929G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1374G>A	14.37:g.62204929G>A						HIF1A_uc001xfr.2_Silent_p.T458T|HIF1A_uc001xfs.2_Silent_p.T459T	p.T458T	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	10	1778	+			458			ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.1374G>A	CCDS9753.1																																																																																				0.403	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		49	81	0	0	0	0	49	81				
SIPA1L1	26037	broad.mit.edu	37	14	72175990	72175990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:72175990G>A	ENST00000555818.1	+	15	4228	c.3880G>A	c.(3880-3882)Gcg>Acg	p.A1294T	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A748T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1273T|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1294	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAGCAATGCGTCAAGTGC	0.483																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(3880-3882)GCG>ACG		signal-induced proliferation-associated 1 like							101.0	81.0	87.0					14																	72175990		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72175990G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3880G>A	14.37:g.72175990G>A	ENSP00000450832:p.Ala1294Thr					SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1273T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1273T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1294T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A748T|SIPA1L1_uc001xmw.2_Missense_Mutation_p.A59T	p.A1294T	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4228	+			1294			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3880G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309155	0.40895	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.06	5.15	0.70609	.	0.101976	0.64402	D	0.000002	T	0.42988	0.1227	L	0.27053	0.805	0.53688	D	0.999977	B;B;B;B;P	0.48294	0.057;0.011;0.296;0.032;0.908	B;B;B;B;P	0.46049	0.04;0.008;0.078;0.071;0.502	T	0.35822	-0.9773	10	0.44086	T	0.13	-17.6614	16.5097	0.84281	0.0:0.0:0.8681:0.1318	.	748;1294;748;1273;1294	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	T	1273;1294;1273;748	ENSP00000370630:A1273T;ENSP00000450832:A1294T;ENSP00000351352:A1273T;ENSP00000440682:A748T	ENSP00000351352:A1294T	A	+	1	0	SIPA1L1	71245743	1.000000	0.71417	0.515000	0.27774	0.612000	0.37316	5.294000	0.65687	1.510000	0.48803	0.655000	0.94253	GCG		0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		17	56	0	0	0	0	17	56				
EML5	161436	broad.mit.edu	37	14	89088975	89088975	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:89088975A>G	ENST00000380664.5	-	35	4961	c.4962T>C	c.(4960-4962)gaT>gaC	p.D1654D	EML5_ENST00000554922.1_Silent_p.D1662D|EML5_ENST00000352093.5_Silent_p.D1616D|EML5_ENST00000553320.1_Intron			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1654						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACGAACACAATCTGTGGCTT	0.473																																						uc001xxg.2		NA																	0				ovary(3)	3						c.(4984-4986)GAT>GAC		echinoderm microtubule associated protein like							99.0	101.0	101.0					14																	89088975		2043	4196	6239	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89088975A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4962T>C	14.37:g.89088975A>G						EML5_uc001xxf.2_Silent_p.D449D|EML5_uc001xxh.1_Silent_p.D793D|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_5'Flank	p.D1662D	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			37	5172	-			1654					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.4986T>C	CCDS45148.1																																																																																				0.473	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			23	55	0	0	0	0	23	55				
RIN3	79890	broad.mit.edu	37	14	93151468	93151468	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:93151468G>A	ENST00000216487.7	+	9	2763	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	868					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCTCAACAAGGCCCGGGCCT	0.662																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(2602-2604)AAG>AAA		Ras and Rab interactor 3							36.0	35.0	36.0					14																	93151468		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93151468G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2604G>A	14.37:g.93151468G>A						RIN3_uc010auk.2_Silent_p.K530K|RIN3_uc001yaq.2_Silent_p.K793K|RIN3_uc001yas.1_Silent_p.K530K	p.K868K	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			9	2756	+		all_cancers(154;0.0701)	868					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.2604G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	7.375	0.627698	0.14257	.	.	ENSG00000100599	ENST00000556418	.	.	.	5.08	2.12	0.27331	.	.	.	.	.	T	0.58250	0.2109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50874	-0.8776	4	.	.	.	-33.0947	9.5946	0.39567	0.3012:0.0:0.6988:0.0	.	.	.	.	S	385	.	.	G	+	1	0	RIN3	92221221	1.000000	0.71417	0.995000	0.50966	0.640000	0.38277	0.935000	0.28924	0.222000	0.20900	-0.219000	0.12488	GGC		0.662	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			10	33	0	0	0	0	10	33				
SERPINA1	5265	broad.mit.edu	37	14	94845935	94845935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:94845935G>T	ENST00000448921.1	-	6	1503	c.931C>A	c.(931-933)Cat>Aat	p.H311N	SERPINA1_ENST00000449399.3_Missense_Mutation_p.H311N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.H311N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.H311N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.H311N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	311					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTGGGTAAATGTAAGCTGGCA	0.493																																						uc001ycx.3		NA																	0				skin(1)	1						c.(931-933)CAT>AAT		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						133.0	120.0	124.0					14																	94845935		2203	4300	6503	SO:0001583	missense	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94845935G>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.931C>A	14.37:g.94845935G>T	ENSP00000416066:p.His311Asn					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.H311N|SERPINA1_uc010aux.2_Missense_Mutation_p.H311N|SERPINA1_uc001ycy.3_Missense_Mutation_p.H311N|SERPINA1_uc010auy.2_Missense_Mutation_p.H311N|SERPINA1_uc001ycz.3_Missense_Mutation_p.H311N|SERPINA1_uc010auz.2_Missense_Mutation_p.H311N|SERPINA1_uc010ava.2_Missense_Mutation_p.H311N|SERPINA1_uc001ydb.3_Missense_Mutation_p.H311N|SERPINA1_uc010avb.2_Missense_Mutation_p.H311N|SERPINA1_uc001ydc.3_Missense_Mutation_p.H311N|SERPINA1_uc001yda.1_Missense_Mutation_p.H311N	p.H311N	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1192	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	311					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	c.931C>A	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968711	0.53614	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.38	-9.52	0.00578	Serpin domain (3);	1.410160	0.04083	N	0.310000	D	0.88683	0.6503	M	0.82132	2.575	0.09310	N	1	B;P	0.45078	0.13;0.85	B;P	0.57057	0.15;0.812	D	0.86173	0.1601	10	0.66056	D	0.02	.	7.5441	0.27757	0.55:0.0:0.1902:0.2598	.	311;311	P01009-2;P01009	.;A1AT_HUMAN	N	311	ENSP00000390299:H311N;ENSP00000416066:H311N;ENSP00000408474:H311N;ENSP00000348068:H311N;ENSP00000376802:H311N;ENSP00000376803:H311N;ENSP00000385960:H311N;ENSP00000416354:H311N;ENSP00000386094:H311N	ENSP00000348068:H311N	H	-	1	0	SERPINA1	93915688	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.287000	0.08388	-2.197000	0.00750	-0.768000	0.03414	CAT		0.493	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		30	80	1	0	5.6e-13	7.52e-13	30	80				
SERPINA5	5104	broad.mit.edu	37	14	95054055	95054055	+	Missense_Mutation	SNP	A	A	T	rs144727156	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr14:95054055A>T	ENST00000554866.1	+	2	470	c.356A>T	c.(355-357)aAc>aTc	p.N119I	SERPINA5_ENST00000553780.1_Missense_Mutation_p.N119I|SERPINA5_ENST00000329597.7_Missense_Mutation_p.N119I|SERPINA5_ENST00000554276.1_Missense_Mutation_p.N119I			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	119					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAGGAACTCAACCAGCCCAGA	0.567																																						uc001ydm.2		NA																	0				ovary(2)	2						c.(355-357)AAC>ATC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						54.0	47.0	50.0					14																	95054055		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054055A>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.356A>T	14.37:g.95054055A>T	ENSP00000451126:p.Asn119Ile					SERPINA5_uc010ave.2_Missense_Mutation_p.N119I|SERPINA5_uc001ydn.1_Missense_Mutation_p.N119I	p.N119I	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	566	+			119					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.356A>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532804	0.45073	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000555681;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	3.94	-4.73	0.03259	Serpin domain (3);	1.831890	0.03129	N	0.164904	T	0.81250	0.4783	L	0.58583	1.82	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.21151	0.033;0.031	T	0.66304	-0.5957	10	0.59425	D	0.04	.	7.4069	0.26995	0.4672:0.4021:0.1307:0.0	.	119;119	G3V5Q9;P05154	.;IPSP_HUMAN	I	119	ENSP00000450484:N119I;ENSP00000450837:N119I;ENSP00000452469:N119I;ENSP00000451126:N119I;ENSP00000333203:N119I;ENSP00000450745:N119I;ENSP00000451650:N119I;ENSP00000451610:N119I;ENSP00000450485:N119I	ENSP00000333203:N119I	N	+	2	0	SERPINA5	94123808	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.758000	0.04766	-0.910000	0.03847	-0.463000	0.05309	AAC		0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		11	22	0	0	0	0	11	22				
APBA2	321	broad.mit.edu	37	15	29346999	29346999	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:29346999C>T	ENST00000558402.1	+	5	1511	c.912C>T	c.(910-912)acC>acT	p.T304T	APBA2_ENST00000561069.1_Silent_p.T304T|APBA2_ENST00000411764.1_Silent_p.T304T|APBA2_ENST00000558259.1_Silent_p.T304T|APBA2_ENST00000558330.1_Silent_p.T304T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	304					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGCCCAAGACCAGGACCCCAG	0.677																																						uc001zck.2		NA																	0					0						c.(910-912)ACC>ACT		amyloid beta A4 precursor protein-binding,							18.0	21.0	20.0					15																	29346999		2198	4285	6483	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346999C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.912C>T	15.37:g.29346999C>T						APBA2_uc010azj.2_Silent_p.T304T|APBA2_uc010uat.1_Silent_p.T304T|APBA2_uc001zcl.2_Silent_p.T304T|APBA2_uc010uas.1_Silent_p.T304T	p.T304T	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	1119	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	304					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.912C>T	CCDS10022.1																																																																																				0.677	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	24	0	0	0	0	5	24				
VPS13C	54832	broad.mit.edu	37	15	62167104	62167104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr15:62167104C>A	ENST00000261517.5	-	77	10458	c.10385G>T	c.(10384-10386)gGa>gTa	p.G3462V	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3419V|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3462V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCTCACTCCAATCACTAA	0.303																																						uc002agz.2		NA																	0				ovary(2)	2						c.(10384-10386)GGA>GTA		vacuolar protein sorting 13C protein isoform 2A							102.0	103.0	103.0					15																	62167104		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62167104C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10385G>T	15.37:g.62167104C>A	ENSP00000261517:p.Gly3462Val					VPS13C_uc002aha.2_Missense_Mutation_p.G3419V|VPS13C_uc002ahb.1_Missense_Mutation_p.G3462V|VPS13C_uc002ahc.1_Missense_Mutation_p.G3419V	p.G3462V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			77	10459	-			3462						Missense_Mutation	SNP	ENST00000261517.5	37	c.10385G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851572	0.91355	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.75704	-0.95;-0.96;-0.82	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	H	0.97611	4.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94050	0.7317	10	0.87932	D	0	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	3419;3462;3419;3462	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	3419;3462;3462;3462	ENSP00000249837:G3419V;ENSP00000261517:G3462V;ENSP00000379233:G3462V	ENSP00000249837:G3419V	G	-	2	0	VPS13C	59954396	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.078000	0.76821	2.761000	0.94854	0.650000	0.86243	GGA		0.303	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	18	1	0	1.96e-10	2.52e-10	13	18				
GPR139	124274	broad.mit.edu	37	16	20043388	20043388	+	Missense_Mutation	SNP	C	C	G	rs140063049		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20043388C>G	ENST00000570682.1	-	2	1031	c.731G>C	c.(730-732)cGc>cCc	p.R244P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCA	0.542																																						uc002dgu.1		NA																	0				ovary(2)	2						c.(730-732)CGC>CCC		G protein-coupled receptor 139							68.0	74.0	72.0					16																	20043388		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043388C>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.731G>C	16.37:g.20043388C>G	ENSP00000458791:p.Arg244Pro					GPR139_uc010vaw.1_Missense_Mutation_p.R151P	p.R244P	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	893	-			244			Helical; Name=6; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.731G>C	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222331	0.79464	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74586	-0.3616	9	0.48119	T	0.1	-43.0432	18.8716	0.92317	0.0:1.0:0.0:0.0	.	244	Q6DWJ6	GP139_HUMAN	P	244	.	ENSP00000370779:R244P	R	-	2	0	GPR139	19950889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.694000	0.91930	0.655000	0.94253	CGC		0.542	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		27	59	0	0	0	0	27	59				
DCUN1D3	123879	broad.mit.edu	37	16	20873495	20873496	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:20873495_20873496GG>TT	ENST00000324344.4	-	2	650_651	c.365_366CC>AA	c.(364-366)cCC>cAA	p.P122Q	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.P122Q	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	122	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GAAATTCTGTGGGGTCAACACA	0.485																																						uc002dhz.2		NA																	0				ovary(2)	2						c.(364-366)CCC>CAA		DCN1, defective in cullin neddylation 1, domain																																				SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20873495_20873496GG>TT	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.365_366delinsTT	16.37:g.20873495_20873496delinsTT	ENSP00000319482:p.Pro122Gln					ERI2_uc002dht.3_Intron	p.P122Q	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	2	506_507	-			122			DCUN1.		B3KVY4	Missense_Mutation	DNP	ENST00000324344.4	37	c.365_366CC>AA	CCDS10592.1																																																																																				0.485	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		31	90	0	0	0	0	31	90				
N4BP1	9683	broad.mit.edu	37	16	48595684	48595684	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:48595684A>G	ENST00000262384.3	-	2	1106	c.870T>C	c.(868-870)tcT>tcC	p.S290S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	290					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GCCTTTCTTCAGAATCAGAAA	0.408																																						uc002efp.2		NA																	0					0						c.(868-870)TCT>TCC		Nedd4 binding protein 1							83.0	80.0	81.0					16																	48595684		1828	4082	5910	SO:0001819	synonymous_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595684A>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.870T>C	16.37:g.48595684A>G							p.S290S	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1107	-		all_cancers(37;0.179)|all_lung(18;0.11)	290					A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	c.870T>C	CCDS45479.1																																																																																				0.408	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		19	46	0	0	0	0	19	46				
SLC12A4	6560	broad.mit.edu	37	16	67984561	67984561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:67984561C>T	ENST00000316341.3	-	11	1590	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	SLC12A4_ENST00000422611.2_Missense_Mutation_p.D486N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D478N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D484N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D436N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D484N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D453N|SLC12A4_ENST00000572010.1_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	484					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTCACTTGTCCCGGAGAACC	0.632																																						uc002euz.2		NA																	0				ovary(1)	1						c.(1450-1452)GAC>AAC		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						88.0	78.0	82.0					16																	67984561		2196	4300	6496	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67984561C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1450G>A	16.37:g.67984561C>T	ENSP00000318557:p.Asp484Asn					SLC12A4_uc010ceu.2_Missense_Mutation_p.D478N|SLC12A4_uc010vkh.1_Missense_Mutation_p.D453N|SLC12A4_uc010vki.1_Missense_Mutation_p.D484N|SLC12A4_uc010vkj.1_Missense_Mutation_p.D486N|SLC12A4_uc002eva.2_Missense_Mutation_p.D484N|SLC12A4_uc002evb.2_Intron	p.D484N	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	11	1591	-		Ovarian(137;0.192)	484			Cytoplasmic (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1450G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556676	0.96514	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	4.4	4.4	0.53042	Amino acid permease domain (1);	0.043020	0.85682	D	0.000000	D	0.98720	0.9570	M	0.70108	2.13	0.80722	D	1	D;D;D;D;P;P	0.89917	0.999;0.974;1.0;0.968;0.688;0.608	D;P;D;P;P;B	0.91635	0.994;0.798;0.999;0.622;0.57;0.334	D	0.99466	1.0944	10	0.54805	T	0.06	.	17.892	0.88875	0.0:1.0:0.0:0.0	.	486;484;453;478;484;484	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	486;453;478;484;484	ENSP00000395983:D486N;ENSP00000438334:D453N;ENSP00000445962:D478N;ENSP00000343374:D484N;ENSP00000318557:D484N	ENSP00000318557:D484N	D	-	1	0	SLC12A4	66542062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.390000	0.81377	0.655000	0.94253	GAC		0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		3	15	0	0	0	0	3	15				
ATP2C2	9914	broad.mit.edu	37	16	84492912	84492912	+	Silent	SNP	C	C	T	rs371639847		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:84492912C>T	ENST00000262429.4	+	23	2342	c.2253C>T	c.(2251-2253)acC>acT	p.T751T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.T751T|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	751					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTGTCCACCGTGTTCAACC	0.642																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2251-2253)ACC>ACT		ATPase, Ca++ transporting, type 2C, member 2		C		1,4173		0,1,2086	73.0	83.0	80.0		2253	-4.2	1.0	16		80	0,8428		0,0,4214	no	coding-synonymous	ATP2C2	NM_014861.2		0,1,6300	TT,TC,CC		0.0,0.024,0.0079		751/947	84492912	1,12601	2087	4214	6301	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84492912C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2253C>T	16.37:g.84492912C>T						ATP2C2_uc010chj.2_Silent_p.T751T|ATP2C2_uc002fhy.2_Silent_p.T768T|ATP2C2_uc002fhz.2_Silent_p.T600T|ATP2C2_uc002fia.2_5'Flank	p.T751T	NM_014861	NP_055676	O75185	AT2C2_HUMAN			23	2342	+			751			Helical; Name=6; (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.2253C>T	CCDS42207.1																																																																																				0.642	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		26	73	0	0	0	0	26	73				
TP53	7157	broad.mit.edu	37	17	7577142	7577143	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:7577142_7577143CC>AA	ENST00000269305.4	-	8	984_985	c.795_796GG>TT	c.(793-798)ctGGga>ctTTga	p.G266*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.L265L(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265P(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTCCGTCCCAGTAGATTAC	0.52		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		89	Substitution - Missense(48)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Substitution - coding silent(2)|Insertion - Frameshift(1)	p.G266E(45)|p.G266R(42)|p.G266V(31)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G262_S269delGNLLGRNS(2)|p.G266_E271delGRNSFE(2)|p.L265L(2)|p.G266T(1)|p.G266_N268delGRN(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.L265_R267delLGR(1)|p.L265_K305del41(1)|p.G266fs*4(1)|p.L265P(1)	lung(17)|large_intestine(11)|ovary(8)|urinary_tract(7)|central_nervous_system(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(793-798)CTGGGA>CTTTGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577142_7577143CC>AA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.795_796delinsAA	17.37:g.7577142_7577143delinsAA	ENSP00000269305:p.Gly266*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.G266*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.G134*|TP53_uc010cng.1_Nonsense_Mutation_p.G134*|TP53_uc002gii.1_Nonsense_Mutation_p.G134*|TP53_uc010cnh.1_Nonsense_Mutation_p.G266*|TP53_uc010cni.1_Nonsense_Mutation_p.G266*|TP53_uc002gij.2_Nonsense_Mutation_p.G266*	p.G266*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	989_990	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	DNP	ENST00000269305.4	37	c.795_796GG>TT	CCDS11118.1																																																																																				0.520	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	13	0	0	0	0	8	13				
ARHGEF15	22899	broad.mit.edu	37	17	8215500	8215500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:8215500G>A	ENST00000361926.3	+	2	253	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R48Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	48	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R48Q(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAACTACCCCGAAACTCCAAT	0.632																																						uc002glc.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|skin(1)	3						c.(142-144)CGA>CAA		Rho guanine exchange factor 15							97.0	104.0	101.0					17																	8215500		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215500G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.143G>A	17.37:g.8215500G>A	ENSP00000355026:p.Arg48Gln					ARHGEF15_uc002glb.1_Missense_Mutation_p.R48Q|ARHGEF15_uc002gld.2_Missense_Mutation_p.R48Q|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R48Q	p.R48Q	NM_173728	NP_776089	O94989	ARHGF_HUMAN			2	264	+			48			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.143G>A	CCDS11139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.825|2.825	-0.243993|-0.243993	0.05906|0.05906	.|.	.|.	ENSG00000198844|ENSG00000198844	ENST00000455564|ENST00000361926;ENST00000421050	.|T;T	.|0.68331	.|-0.32;-0.32	5.0|5.0	-4.23|-4.23	0.03789|0.03789	.|.	.|0.733664	.|0.11368	.|N	.|0.571225	T|T	0.29716|0.29716	0.0742|0.0742	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.18023|0.18023	-1.0350|-1.0350	6|10	0.10111|0.18276	T|T	0.7|0.48	2.2375|2.2375	0.2435|0.2435	0.00195|0.00195	0.3073:0.273:0.1622:0.2576|0.3073:0.273:0.1622:0.2576	.|.	.|48;48	.|D3DTR7;O94989	.|.;ARHGF_HUMAN	K|Q	10|48	.|ENSP00000355026:R48Q;ENSP00000412505:R48Q	ENSP00000413324:E10K|ENSP00000355026:R48Q	E|R	+|+	1|2	0|0	ARHGEF15|ARHGEF15	8156225|8156225	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	-0.158000|-0.158000	0.10070|0.10070	-0.935000|-0.935000	0.03728|0.03728	-1.893000|-1.893000	0.00533|0.00533	GAA|CGA		0.632	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		50	97	0	0	0	0	50	97				
MYH1	4619	broad.mit.edu	37	17	10402040	10402040	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:10402040G>T	ENST00000226207.5	-	30	4178	c.4084C>A	c.(4084-4086)Cag>Aag	p.Q1362K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1362					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATTGCTCTCTGTAGCTCGGCC	0.592																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4084-4086)CAG>AAG		myosin, heavy chain 1, skeletal muscle, adult							160.0	137.0	145.0					17																	10402040		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402040G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4084C>A	17.37:g.10402040G>T	ENSP00000226207:p.Gln1362Lys					uc002gml.1_Intron	p.Q1362K	NM_005963	NP_005954	P12882	MYH1_HUMAN			30	4178	-			1362			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4084C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160027	0.94727	.	.	ENSG00000109061	ENST00000226207	T	0.78246	-1.16	5.41	5.41	0.78517	Myosin tail (1);	0.000000	0.41194	U	0.000936	D	0.92208	0.7529	H	0.97186	3.955	0.80722	D	1	D	0.63046	0.992	D	0.65573	0.936	D	0.94390	0.7613	10	0.87932	D	0	.	19.5475	0.95305	0.0:0.0:1.0:0.0	.	1362	P12882	MYH1_HUMAN	K	1362	ENSP00000226207:Q1362K	ENSP00000226207:Q1362K	Q	-	1	0	MYH1	10342765	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.944000	0.87722	2.696000	0.92011	0.655000	0.94253	CAG		0.592	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		41	85	1	0	4.14e-20	5.88e-20	41	85				
MYO15A	51168	broad.mit.edu	37	17	18067125	18067125	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:18067125T>A	ENST00000205890.5	+	60	10098	c.9760T>A	c.(9760-9762)Tat>Aat	p.Y3254N	MYO15A_ENST00000451725.2_Missense_Mutation_p.Y146N|MYO15A_ENST00000418233.3_Missense_Mutation_p.Y518N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3254	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCAATGAATATGTTATCTT	0.597																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(9760-9762)TAT>AAT		myosin XV							80.0	82.0	81.0					17																	18067125		2046	4201	6247	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18067125T>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9760T>A	17.37:g.18067125T>A	ENSP00000205890:p.Tyr3254Asn					MYO15A_uc010vxi.1_Missense_Mutation_p.Y518N|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.Y243N|MYO15A_uc002gsl.2_Missense_Mutation_p.Y261N|MYO15A_uc010vxm.1_Missense_Mutation_p.Y176N|MYO15A_uc002gsm.1_Missense_Mutation_p.Y176N|MYO15A_uc010cpv.2_RNA	p.Y3254N	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			59	10098	+	all_neural(463;0.228)		3254			Tail.|FERM.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9760T>A	CCDS42271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.30|18.30	3.594451|3.594451	0.66219|0.66219	.|.	.|.	ENSG00000091536|ENSG00000091536	ENST00000445289|ENST00000205890;ENST00000418233;ENST00000451725	.|D;D	.|0.98550	.|-2.68;-4.99	4.94|4.94	3.83|3.83	0.44106|0.44106	.|Band 4.1 domain (1);FERM domain (1);	.|.	.|.	.|.	.|.	D|D	0.98557|0.98557	0.9518|0.9518	M|M	0.73598|0.73598	2.24|2.24	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;P;P;D;D	.|0.89917	.|0.999;0.986;0.76;0.56;1.0;0.995	.|D;P;P;B;D;P	.|0.91635	.|0.995;0.779;0.643;0.132;0.999;0.858	D|D	0.98871|0.98871	1.0766|1.0766	6|9	0.87932|0.87932	D|D	0|0	.|.	10.9195|10.9195	0.47156|0.47156	0.1406:0.0:0.0:0.8594|0.1406:0.0:0.0:0.8594	.|.	.|146;243;518;3254;176;261	.|B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.|.;.;.;MYO15_HUMAN;.;.	K|N	2|3254;243;146	.|ENSP00000205890:Y3254N;ENSP00000409098:Y146N	ENSP00000401827:N2K|ENSP00000205890:Y3254N	N|Y	+|+	3|1	2|0	MYO15A|MYO15A	18007850|18007850	1.000000|1.000000	0.71417|0.71417	0.294000|0.294000	0.24946|0.24946	0.606000|0.606000	0.37113|0.37113	4.703000|4.703000	0.61824|0.61824	0.873000|0.873000	0.35799|0.35799	0.459000|0.459000	0.35465|0.35465	AAT|TAT		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	17	0	0	0	0	7	17				
PSMD11	5717	broad.mit.edu	37	17	30801833	30801833	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:30801833A>G	ENST00000261712.3	+	8	1103	c.840A>G	c.(838-840)gcA>gcG	p.A280A	PSMD11_ENST00000457654.2_Silent_p.A280A	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	280	PCI.				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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TTCGGTATGCAGGGAGGCAGG	0.488																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NA																	0				ovary(1)	1						c.(838-840)GCA>GCG		proteasome 26S non-ATPase subunit 11							131.0	101.0	111.0					17																	30801833		2203	4300	6503	SO:0001819	synonymous_variant	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30801833A>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.840A>G	17.37:g.30801833A>G						PSMD11_uc010wbz.1_Silent_p.A280A|PSMD11_uc002hhm.2_Silent_p.A280A	p.A280A	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		8	880	+		Breast(31;0.159)|Ovarian(249;0.182)	280			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Silent	SNP	ENST00000261712.3	37	c.840A>G	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359923	0.24598	.	.	ENSG00000108671	ENST00000457654	.	.	.	4.98	-3.31	0.04988	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41124	-0.9526	4	.	.	.	-5.5096	4.6511	0.12596	0.523:0.0:0.2211:0.2558	.	.	.	.	G	18	.	.	R	+	1	2	PSMD11	27825946	0.000000	0.05858	0.989000	0.46669	0.998000	0.95712	-2.022000	0.01439	-0.527000	0.06374	0.459000	0.35465	AGG		0.488	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		3	47	0	0	0	0	3	47				
SPPL2C	162540	broad.mit.edu	37	17	43922823	43922823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:43922823A>T	ENST00000329196.5	+	1	568	c.551A>T	c.(550-552)gAc>gTc	p.D184V	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	184						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CCCATCATCGACTACAACATG	0.637																																						uc010wka.1		NA																	0				pancreas(2)	2						c.(550-552)GAC>GTC		intramembrane protease 5 precursor							98.0	74.0	82.0					17																	43922823		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922823A>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.551A>T	17.37:g.43922823A>T	ENSP00000332488:p.Asp184Val					LOC100128977_uc010wjz.1_Intron	p.D184V	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	551	+	Colorectal(2;0.0416)		184			Extracellular (Potential).		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.551A>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536359	0.65085	.	.	ENSG00000185294	ENST00000329196	T	0.14766	2.48	5.07	5.07	0.68467	.	0.000000	0.46758	D	0.000272	T	0.41003	0.1140	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43343	-0.9397	10	0.87932	D	0	-28.634	11.1379	0.48386	1.0:0.0:0.0:0.0	.	184	Q8IUH8	IMP5_HUMAN	V	184	ENSP00000332488:D184V	ENSP00000332488:D184V	D	+	2	0	AC217771.1	41278603	1.000000	0.71417	0.987000	0.45799	0.444000	0.32077	6.305000	0.72805	2.129000	0.65627	0.533000	0.62120	GAC		0.637	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		37	86	0	0	0	0	37	86				
MED13	9969	broad.mit.edu	37	17	60028197	60028197	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr17:60028197G>T	ENST00000397786.2	-	28	6356	c.6280C>A	c.(6280-6282)Ctt>Att	p.L2094I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2094					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAAGAAAAAGGGGACACTGA	0.413																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(6280-6282)CTT>ATT		mediator complex subunit 13							136.0	124.0	127.0					17																	60028197		1912	4141	6053	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028197G>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6280C>A	17.37:g.60028197G>T	ENSP00000380888:p.Leu2094Ile						p.L2094I	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			28	6357	-			2094					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6280C>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658201	0.88154	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83250	-1.7	6.17	5.2	0.72013	.	0.059062	0.64402	D	0.000002	T	0.81669	0.4871	M	0.68317	2.08	0.80722	D	1	P	0.41710	0.76	B	0.41440	0.357	T	0.81428	-0.0937	10	0.44086	T	0.13	-19.1709	11.3098	0.49358	0.0721:0.1292:0.7987:0.0	.	2094	Q9UHV7	MED13_HUMAN	I	2094;2093	ENSP00000380888:L2094I	ENSP00000262436:L2093I	L	-	1	0	MED13	57382979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.045000	0.71020	1.597000	0.50072	0.655000	0.94253	CTT		0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		4	72	1	0	0.00024832	0.000273308	4	72				
TAF4B	6875	broad.mit.edu	37	18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L|TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289																																						uc002kvu.3		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1771-1773)TCA>TTA		TAF4b RNA polymerase II, TATA box binding							41.0	39.0	39.0					18																	23873435		1790	4047	5837	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23873435C>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1772C>T	18.37:g.23873435C>T	ENSP00000269142:p.Ser591Leu					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S596L	p.S591L	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		9	2261	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		591					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1772C>T	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553718	0.45487	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.27557	1.66;1.66	5.27	5.27	0.74061	.	0.712825	0.13589	N	0.376740	T	0.46814	0.1412	M	0.66939	2.045	0.45607	D	0.998547	P;D	0.58268	0.948;0.982	P;P	0.50314	0.576;0.637	T	0.46830	-0.9163	10	0.52906	T	0.07	-3.2407	18.4848	0.90824	0.0:1.0:0.0:0.0	.	591;596	Q92750;A4PBF7	TAF4B_HUMAN;.	L	594;591;591	ENSP00000269142:S591L;ENSP00000383314:S591L	ENSP00000269142:S591L	S	+	2	0	TAF4B	22127433	0.994000	0.37717	0.995000	0.50966	0.900000	0.52787	3.323000	0.52014	2.472000	0.83506	0.467000	0.42956	TCA		0.289	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		9	13	0	0	0	0	9	13				
TAF4B	6875	broad.mit.edu	37	18	23873440	23873440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:23873440C>T	ENST00000269142.5	+	9	2775	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593*|TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	593					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTCACTTCAAGCATCTCC	0.284																																						uc002kvu.3		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1777-1779)CAA>TAA		TAF4b RNA polymerase II, TATA box binding							40.0	38.0	39.0					18																	23873440		1788	4047	5835	SO:0001587	stop_gained	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23873440C>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1777C>T	18.37:g.23873440C>T	ENSP00000269142:p.Gln593*					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Nonsense_Mutation_p.Q598*	p.Q593*	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		9	2266	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		593					Q29YA4|Q29YA5	Nonsense_Mutation	SNP	ENST00000269142.5	37	c.1777C>T	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	41	8.978946	0.99023	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	.	.	.	5.27	5.27	0.74061	.	0.642204	0.15889	N	0.239658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.2488	18.4848	0.90824	0.0:1.0:0.0:0.0	.	.	.	.	X	596;593;593	.	ENSP00000269142:Q593X	Q	+	1	0	TAF4B	22127438	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	4.868000	0.63021	2.472000	0.83506	0.467000	0.42956	CAA		0.284	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		10	14	0	0	0	0	10	14				
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr18:64172320C>G	ENST00000262150.2	-	12	2340	c.2048G>C	c.(2047-2049)aGg>aCg	p.R683T	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(2047-2049)AGG>ACG		cadherin 19, type 2 preproprotein							165.0	158.0	160.0					18																	64172320		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172320C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2048G>C	18.37:g.64172320C>G	ENSP00000262150:p.Arg683Thr					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.R683T	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2186	-		Esophageal squamous(42;0.0132)	683			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.2048G>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351997	0.61183	.	.	ENSG00000071991	ENST00000262150	T	0.76968	-1.06	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.86548	0.5959	M	0.75264	2.295	0.28559	N	0.911229	D	0.89917	1.0	D	0.81914	0.995	T	0.81927	-0.0709	10	0.87932	D	0	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	T	683	ENSP00000262150:R683T	ENSP00000262150:R683T	R	-	2	0	CDH19	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		47	56	0	0	0	0	47	56				
MARCH2	51257	broad.mit.edu	37	19	8486776	8486776	+	Missense_Mutation	SNP	G	G	A	rs141281179		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:8486776G>A	ENST00000602117.1	+	2	507	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	MARCH2_ENST00000381035.4_Missense_Mutation_p.G18S|MARCH2_ENST00000215555.2_Missense_Mutation_p.G18S|MARCH2_ENST00000601283.1_Missense_Mutation_p.G18S|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_Missense_Mutation_p.G18S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	18					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGACTGCTCCGGCAGCCCTGC	0.677																																						uc002mjv.2		NA																	0				ovary(2)	2						c.(52-54)GGC>AGC		membrane-associated ring finger (C3HC4) 2		G	SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	52.0	50.0	51.0		52,52,52	0.9	0.8	19	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense,missense	MARCH2	NM_001005415.1,NM_001005416.1,NM_016496.4	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	18/247,18/177,18/247	8486776	1,13005	2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486776G>A	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.52G>A	19.37:g.8486776G>A	ENSP00000471536:p.Gly18Ser					MARCH2_uc002mjw.2_Missense_Mutation_p.G18S|MARCH2_uc002mjx.2_Missense_Mutation_p.G18S	p.G18S	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN			3	493	+			18					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.52G>A	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623292	0.46840	2.27E-4	0.0	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.13901	2.55;2.55;2.55	5.65	0.914	0.19360	.	0.173675	0.49916	N	0.000131	T	0.08626	0.0214	L	0.45581	1.43	0.46279	D	0.998961	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.27157	-1.0082	10	0.05959	T	0.93	-12.4348	6.2144	0.20648	0.2339:0.1346:0.6316:0.0	.	18;18	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	S	18	ENSP00000377518:G18S;ENSP00000215555:G18S;ENSP00000370423:G18S	ENSP00000215555:G18S	G	+	1	0	MARCH2	8392776	0.698000	0.27777	0.847000	0.33407	0.974000	0.67602	0.956000	0.29202	0.320000	0.23234	0.555000	0.69702	GGC		0.677	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		22	67	0	0	0	0	22	67				
OR7G2	390882	broad.mit.edu	37	19	9213869	9213869	+	Silent	SNP	C	C	T	rs141362700		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:9213869C>T	ENST00000305456.2	-	1	113	c.114G>A	c.(112-114)ctG>ctA	p.L38L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATCCTCTATCAGTCCCAGGA	0.463																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1		NA																	0				skin(1)	1						c.(112-114)CTG>CTA		olfactory receptor, family 7, subfamily G,		C		0,4406		0,0,2203	108.0	102.0	104.0		114	-6.5	0.0	19	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7G2	NM_001005193.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		38/346	9213869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213869C>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.114G>A	19.37:g.9213869C>T							p.L38L	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	114	-			17			Extracellular (Potential).		Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.114G>A	CCDS32897.1																																																																																				0.463	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			20	42	0	0	0	0	20	42				
RGL3	57139	broad.mit.edu	37	19	11510580	11510580	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:11510580G>T	ENST00000380456.3	-	16	1760	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	RGL3_ENST00000568628.1_5'Flank|RGL3_ENST00000393423.3_Missense_Mutation_p.P572H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	566	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACTGCCAGCAGGAGCATCTCT	0.667																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	0				ovary(1)	1						c.(1696-1698)CCT>CAT		ral guanine nucleotide dissociation							27.0	33.0	31.0					19																	11510580		2200	4299	6499	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11510580G>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1697C>A	19.37:g.11510580G>T	ENSP00000369823:p.Pro566His					RGL3_uc002mrn.2_Missense_Mutation_p.P330H|RGL3_uc002mrm.2_Missense_Mutation_p.P330H|RGL3_uc002mro.2_Missense_Mutation_p.P572H	p.P566H	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			16	1761	-			566			Pro-rich.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1697C>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164981	0.21538	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.42513	1.05;0.97	4.92	2.7	0.31948	.	0.754711	0.13180	N	0.407617	T	0.28797	0.0714	L	0.32530	0.975	0.24985	N	0.991576	B;B;B;B	0.21821	0.022;0.061;0.005;0.005	B;B;B;B	0.15052	0.012;0.012;0.005;0.005	T	0.15378	-1.0439	10	0.46703	T	0.11	.	6.1716	0.20421	0.097:0.0:0.7184:0.1845	.	566;572;572;363	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	H	363;572;566	ENSP00000377075:P572H;ENSP00000369823:P566H	ENSP00000344665:P363H	P	-	2	0	RGL3	11371580	0.964000	0.33143	0.877000	0.34402	0.355000	0.29361	1.213000	0.32407	1.274000	0.44362	0.313000	0.20887	CCT		0.667	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		22	37	1	0	7.42e-09	9.23e-09	22	37				
TMEM59L	25789	broad.mit.edu	37	19	18729276	18729276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:18729276G>C	ENST00000600490.1	+	8	1059	c.874G>C	c.(874-876)Gcg>Ccg	p.A292P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A292P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	292						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTGGTGACCGCGCCTGGCCA	0.667																																						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(874-876)GCG>CCG		brain-specific membrane-anchored protein							25.0	21.0	22.0					19																	18729276		2202	4300	6502	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729276G>C	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.874G>C	19.37:g.18729276G>C	ENSP00000470879:p.Ala292Pro						p.A292P	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			7	961	+			292						Missense_Mutation	SNP	ENST00000600490.1	37	c.874G>C	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556783	0.45487	.	.	ENSG00000105696	ENST00000262817	T	0.60171	0.21	4.24	3.2	0.36748	.	0.166538	0.52532	D	0.000071	T	0.61515	0.2353	L	0.29908	0.895	0.53005	D	0.999969	D	0.89917	1.0	D	0.70716	0.97	T	0.63251	-0.6679	10	0.72032	D	0.01	-5.9819	10.2885	0.43581	0.0999:0.0:0.9001:0.0	.	292	Q9UK28	TM59L_HUMAN	P	292	ENSP00000262817:A292P	ENSP00000262817:A292P	A	+	1	0	TMEM59L	18590276	1.000000	0.71417	0.148000	0.22405	0.043000	0.13939	6.949000	0.75971	0.959000	0.37980	0.561000	0.74099	GCG		0.667	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			3	14	0	0	0	0	3	14				
APLP1	333	broad.mit.edu	37	19	36362583	36362583	+	Missense_Mutation	SNP	C	C	T	rs375567499		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:36362583C>T	ENST00000221891.4	+	5	799	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	APLP1_ENST00000537454.2_Missense_Mutation_p.R164C|APLP1_ENST00000586861.1_Missense_Mutation_p.R197C|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	203					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R203C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATCGGTTCCGTGGTGTGGA	0.637																																						uc002oce.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(607-609)CGT>TGT		amyloid precursor-like protein 1 isoform 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	118.0	105.0	109.0		607,607	4.4	1.0	19		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APLP1	NM_001024807.1,NM_005166.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	203/652,203/651	36362583	1,13005	2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362583C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.607C>T	19.37:g.36362583C>T	ENSP00000221891:p.Arg203Cys					APLP1_uc010xsz.1_Missense_Mutation_p.R164C|APLP1_uc002ocf.2_Missense_Mutation_p.R203C|APLP1_uc002ocg.2_Missense_Mutation_p.R106C|APLP1_uc010xta.1_Missense_Mutation_p.R197C	p.R203C	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	745	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		203			Extracellular (Potential).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.607C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055892	0.76074	0.0	1.16E-4	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94793	-3.45;-3.52	4.41	4.41	0.53225	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.38005	N	0.001850	D	0.96506	0.8860	M	0.67953	2.075	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.999;0.999	D	0.97053	0.9765	10	0.87932	D	0	-1.2006	14.4685	0.67499	0.0:1.0:0.0:0.0	.	197;164;203;203	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	C	164;203	ENSP00000441501:R164C;ENSP00000221891:R203C	ENSP00000221891:R203C	R	+	1	0	APLP1	41054423	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.630000	0.46494	2.006000	0.58801	0.462000	0.41574	CGT		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		23	26	0	0	0	0	23	26				
SIGLEC12	89858	broad.mit.edu	37	19	52000164	52000164	+	Missense_Mutation	SNP	G	G	T	rs145034575		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:52000164G>T	ENST00000291707.3	-	7	1624	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.D405E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	523					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCGTTTGCGTCCTCCATGC	0.577																																						uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1567-1569)GAC>GAA		sialic acid binding immunoglobulin-like							187.0	137.0	154.0					19																	52000164		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52000164G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1569C>A	19.37:g.52000164G>T	ENSP00000291707:p.Asp523Glu					SIGLEC12_uc002pww.1_Missense_Mutation_p.D405E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.D250E	p.D523E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1625	-		all_neural(266;0.0199)	523			Cytoplasmic (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1569C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.577379	0.00131	.	.	ENSG00000254521	ENST00000291707	T	0.39056	1.1	1.7	-3.39	0.04868	.	.	.	.	.	T	0.28333	0.0700	L	0.49640	1.575	0.09310	N	1	B;B	0.32876	0.079;0.388	B;B	0.31686	0.044;0.134	T	0.04650	-1.0936	9	0.29301	T	0.29	.	2.4996	0.04630	0.1644:0.4399:0.2498:0.146	.	523;405	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	E	523	ENSP00000291707:D523E	ENSP00000291707:D523E	D	-	3	2	SIGLEC12	56691976	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.992000	0.00657	-4.239000	0.00062	-3.629000	0.00027	GAC		0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		27	34	1	0	3.65e-15	5.01e-15	27	34				
DPRX	503834	broad.mit.edu	37	19	54135364	54135364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:54135364C>A	ENST00000376650.1	+	1	55	c.4C>A	c.(4-6)Cca>Aca	p.P2T	RN7SL317P_ENST00000497408.2_RNA	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTAGAAGATGCCAGGCTCAGA	0.498																																						uc002qcf.1		NA																	0					0						c.(4-6)CCA>ACA		divergent-paired related homeobox							129.0	127.0	128.0					19																	54135364		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54135364C>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.4C>A	19.37:g.54135364C>A	ENSP00000365838:p.Pro2Thr						p.P2T	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	1	55	+	Ovarian(34;0.19)		2						Missense_Mutation	SNP	ENST00000376650.1	37	c.4C>A	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341786	0.11069	.	.	ENSG00000204595	ENST00000376650	D	0.96365	-3.99	1.89	-0.522	0.11928	.	.	.	.	.	D	0.90010	0.6881	L	0.36672	1.1	0.09310	N	1	B	0.25486	0.127	B	0.13407	0.009	T	0.78833	-0.2048	9	0.25106	T	0.35	.	1.5478	0.02569	0.3021:0.2133:0.0:0.4846	.	2	A6NFQ7	DPRX_HUMAN	T	2	ENSP00000365838:P2T	ENSP00000365838:P2T	P	+	1	0	DPRX	58827176	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-0.803000	0.04540	-0.177000	0.10690	-0.350000	0.07774	CCA		0.498	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		36	49	1	0	1.08e-12	1.44e-12	36	49				
RNASEH1	246243	broad.mit.edu	37	2	3598055	3598055	+	Silent	SNP	G	G	A	rs139176330	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:3598055G>A	ENST00000315212.3	-	4	772	c.417C>T	c.(415-417)ttC>ttT	p.F139F	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	139	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AGACGACGACGAAGTCTCCTG	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		17671	0.0		0.001	False		,,,				2504	0.001					uc002qxt.2		NA																	0				ovary(1)	1						c.(415-417)TTC>TTT		ribonuclease H1							74.0	78.0	77.0					2																	3598055		2203	4300	6503	SO:0001819	synonymous_variant	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3598055G>A	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.417C>T	2.37:g.3598055G>A						RNASEH1_uc002qxs.2_Silent_p.F22F	p.F139F	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	4	507	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		139			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000315212.3	37	c.417C>T	CCDS1647.1																																																																																				0.493	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			4	123	0	0	0	0	4	123				
VIT	5212	broad.mit.edu	37	2	37035846	37035846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37035846G>C	ENST00000389975.3	+	14	1878	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	VIT_ENST00000404084.1_Missense_Mutation_p.E478Q|VIT_ENST00000497382.1_Missense_Mutation_p.E195Q|VIT_ENST00000379241.3_Missense_Mutation_p.E504Q|VIT_ENST00000379242.3_Missense_Mutation_p.E541Q|VIT_ENST00000401530.1_Missense_Mutation_p.E505Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	526	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAAGAGTTTGAGATTTCCGA	0.582																																						uc002rpl.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1621-1623)GAG>CAG		vitrin							77.0	76.0	76.0					2																	37035846		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035846G>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1576G>C	2.37:g.37035846G>C	ENSP00000374625:p.Glu526Gln					VIT_uc002rpm.2_Missense_Mutation_p.E519Q|VIT_uc010ezv.2_Missense_Mutation_p.E497Q|VIT_uc010ezw.2_Missense_Mutation_p.E498Q	p.E541Q	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			15	1842	+		all_hematologic(82;0.248)	526			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1621G>C	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947008	0.73672	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	L	0.41906	1.305	0.80722	D	1	D;D;D;D	0.65815	0.993;0.983;0.986;0.995	D;P;D;D	0.67900	0.954;0.841;0.926;0.922	T	0.81992	-0.0678	10	0.36615	T	0.2	-21.6544	18.9114	0.92487	0.0:0.0:1.0:0.0	.	505;504;526;541	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Q	541;526;195;478;504;505	ENSP00000368544:E541Q;ENSP00000374625:E526Q;ENSP00000417874:E195Q;ENSP00000384154:E478Q;ENSP00000368543:E504Q;ENSP00000385658:E505Q	ENSP00000368543:E504Q	E	+	1	0	VIT	36889350	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.928000	0.87587	2.461000	0.83175	0.557000	0.71058	GAG		0.582	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				26	52	0	0	0	0	26	52				
HEATR5B	54497	broad.mit.edu	37	2	37232867	37232867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:37232867C>A	ENST00000233099.5	-	30	4908	c.4813G>T	c.(4813-4815)Gag>Tag	p.E1605*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.E1605*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1605						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGGGCTCCTCAGGTCTAGGG	0.408																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(4813-4815)GAG>TAG		HEAT repeat containing 5B							122.0	110.0	114.0					2																	37232867		2203	4300	6503	SO:0001587	stop_gained	54497						binding	g.chr2:37232867C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4813G>T	2.37:g.37232867C>A	ENSP00000233099:p.Glu1605*					HEATR5B_uc010ezy.1_Nonsense_Mutation_p.E189*	p.E1605*	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			30	4909	-		all_hematologic(82;0.21)	1605					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.4813G>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	46	12.204904	0.99646	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-15.1179	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	1605	.	ENSP00000233099:E1605X	E	-	1	0	HEATR5B	37086371	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.594000	0.82698	2.652000	0.90054	0.655000	0.94253	GAG		0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	30	1	0	0.000308642	0.00033899	15	30				
ZFP36L2	678	broad.mit.edu	37	2	43451842	43451842	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:43451842C>A	ENST00000282388.3	-	2	1394	c.1101G>T	c.(1099-1101)ccG>ccT	p.P367P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	367					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGAGCTCCGGACCGAAGG	0.726																																						uc002rsv.3		NA																	0					0						c.(1099-1101)CCG>CCT		zinc finger protein 36, C3H type-like 2							10.0	12.0	11.0					2																	43451842		2137	4216	6353	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451842C>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1101G>T	2.37:g.43451842C>A						LOC100129726_uc010ynx.1_5'Flank	p.P367P	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1392	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	367					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.1101G>T	CCDS1811.1																																																																																				0.726	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		9	16	1	0	0.00621372	0.00653748	9	16				
EIF2AK3	9451	broad.mit.edu	37	2	88874652	88874652	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:88874652G>A	ENST00000303236.3	-	13	2650	c.2349C>T	c.(2347-2349)caC>caT	p.H783H	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.H632H|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	783	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GTTCAAAGGAGTGCCCCTCAT	0.453																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NA																	0				ovary(3)	3						c.(2347-2349)CAC>CAT		eukaryotic translation initiation factor 2-alpha							290.0	286.0	288.0					2																	88874652		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874652G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2349C>T	2.37:g.88874652G>A							p.H783H	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	2551	-			783			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.2349C>T	CCDS33241.1																																																																																				0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		109	204	0	0	0	0	109	204				
CNGA3	1261	broad.mit.edu	37	2	99012576	99012576	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:99012576C>A	ENST00000272602.2	+	7	982	c.943C>A	c.(943-945)Cac>Aac	p.H315N	CNGA3_ENST00000409937.1_Missense_Mutation_p.H319N|CNGA3_ENST00000436404.2_Missense_Mutation_p.H297N|CNGA3_ENST00000393504.1_Missense_Mutation_p.H315N			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	315					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCATCATCCACTGGAATGC	0.478																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(943-945)CAC>AAC		cyclic nucleotide gated channel alpha 3 isoform							116.0	118.0	117.0					2																	99012576		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012576C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.943C>A	2.37:g.99012576C>A	ENSP00000272602:p.His315Asn					CNGA3_uc002syu.2_Missense_Mutation_p.H297N|CNGA3_uc010fij.2_Missense_Mutation_p.H319N	p.H315N	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1360	+			315			Helical; (Potential).		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.943C>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744676	0.69418	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.99545	-6.13;-6.13;-6.13;-6.13	4.99	4.99	0.66335	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97095	0.9793	10	0.87932	D	0	.	17.206	0.86918	0.0:1.0:0.0:0.0	.	319;297;315	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	N	315;297;315;319	ENSP00000377140:H315N;ENSP00000410070:H297N;ENSP00000272602:H315N;ENSP00000386761:H319N	ENSP00000272602:H315N	H	+	1	0	CNGA3	98379008	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.320000	0.79064	2.595000	0.87683	0.563000	0.77884	CAC		0.478	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		89	88	1	0	7.29e-57	1.07e-56	89	88				
MAP4K4	9448	broad.mit.edu	37	2	102475479	102475479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:102475479G>C	ENST00000347699.4	+	14	1417	c.1417G>C	c.(1417-1419)Gaa>Caa	p.E473Q	MAP4K4_ENST00000350198.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000413150.2_Missense_Mutation_p.E473Q|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E326Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E473Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E473Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E453Q|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E326Q	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	473					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCGACAGCTAGAAGAGGAGCA	0.502																																						uc002tbg.2		NA																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1417-1419)GAA>CAA		mitogen-activated protein kinase kinase kinase							105.0	109.0	108.0					2																	102475479		1979	4167	6146	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102475479G>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1417G>C	2.37:g.102475479G>C	ENSP00000314363:p.Glu473Gln					MAP4K4_uc002tbc.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbd.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbe.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbf.2_Missense_Mutation_p.E473Q|MAP4K4_uc010yvy.1_Missense_Mutation_p.E473Q|MAP4K4_uc002tbh.2_Missense_Mutation_p.E473Q|MAP4K4_uc002tbi.2_Missense_Mutation_p.E326Q|MAP4K4_uc010yvz.1_Missense_Mutation_p.E453Q|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.E369Q	p.E473Q	NM_145687	NP_663720	O95819	M4K4_HUMAN			14	1472	+			473					O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.1417G>C	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.07|16.07	3.018947|3.018947	0.54576|0.54576	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878;ENST00000418101|ENST00000421882	T;T;T;T;T;T;T;T;T;T|.	0.74002|.	2.24;0.67;0.5;0.67;0.5;0.67;0.67;2.24;-0.8;0.3|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72740|0.72740	0.3498|0.3498	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.61080|.	0.981;0.981;0.981;0.981;0.989;0.981;0.981;0.989;0.989;0.989|.	D;D;D;D;D;D;D;D;D;D|.	0.72982|.	0.954;0.954;0.954;0.954;0.979;0.954;0.954;0.979;0.979;0.979|.	T|T	0.67872|0.67872	-0.5558|-0.5558	10|5	0.15952|.	T|.	0.53|.	.|.	20.127|20.127	0.97984|0.97984	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453;473;453;326;473;473;473;473;473;473|.	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	Q|T	473;473;473;326;473;326;473;435;453;62|212	ENSP00000392830:E473Q;ENSP00000313644:E473Q;ENSP00000281111:E473Q;ENSP00000303600:E326Q;ENSP00000389752:E473Q;ENSP00000387370:E326Q;ENSP00000314363:E473Q;ENSP00000409720:E435Q;ENSP00000343658:E453Q;ENSP00000414766:E62Q|.	ENSP00000303600:E326Q|.	E|R	+|+	1|2	0|0	MAP4K4|MAP4K4	101841911|101841911	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	9.329000|9.329000	0.96413|0.96413	2.775000|2.775000	0.95449|0.95449	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.502	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		27	165	0	0	0	0	27	165				
IL1A	3552	broad.mit.edu	37	2	113535595	113535595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:113535595G>A	ENST00000263339.3	-	6	739	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TTCATCTTGGGCAGTCACATA	0.388																																						uc002tig.2		NA																	0				lung(1)	1						c.(583-585)GCC>GTC		interleukin 1, alpha proprotein							194.0	175.0	181.0					2																	113535595		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113535595G>A	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.584C>T	2.37:g.113535595G>A	ENSP00000263339:p.Ala195Val						p.A195V	NM_000575	NP_000566	P01583	IL1A_HUMAN			6	1544	-			195					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.584C>T	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454569	0.63290	.	.	ENSG00000115008	ENST00000263339	T	0.21191	2.02	5.48	3.61	0.41365	.	0.360464	0.24014	N	0.042355	T	0.30823	0.0777	M	0.79475	2.455	0.09310	N	1	D	0.62365	0.991	P	0.50082	0.63	T	0.18147	-1.0346	10	0.52906	T	0.07	-9.1689	6.8946	0.24249	0.0924:0.1791:0.7285:0.0	.	195	P01583	IL1A_HUMAN	V	195	ENSP00000263339:A195V	ENSP00000263339:A195V	A	-	2	0	IL1A	113252066	0.465000	0.25815	0.372000	0.25991	0.658000	0.38924	2.032000	0.41127	1.405000	0.46838	0.655000	0.94253	GCC		0.388	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		14	58	0	0	0	0	14	58				
ZRANB3	84083	broad.mit.edu	37	2	136107559	136107559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:136107559C>A	ENST00000264159.6	-	5	702	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZRANB3_ENST00000401392.1_Nonsense_Mutation_p.E196*|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.E196*	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	196	DNA annealing helicase activity.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATACCTCTTCAGGCCTTCCT	0.408																																						uc002tum.2		NA																	0				lung(2)	2						c.(586-588)GAA>TAA		zinc finger, RAN-binding domain containing 3							113.0	103.0	106.0					2																	136107559		1845	4097	5942	SO:0001587	stop_gained	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136107559C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.586G>T	2.37:g.136107559C>A	ENSP00000264159:p.Glu196*					ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Nonsense_Mutation_p.E196*|ZRANB3_uc002tun.1_Nonsense_Mutation_p.E136*	p.E196*	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	5	703	-			196			Helicase ATP-binding.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Nonsense_Mutation	SNP	ENST00000264159.6	37	c.586G>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	38	7.280038	0.98182	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.5577	19.5544	0.95335	0.0:1.0:0.0:0.0	.	.	.	.	X	196;196;196;136	.	ENSP00000264159:E196X	E	-	1	0	ZRANB3	135824029	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.623000	0.88846	0.591000	0.81541	GAA		0.408	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		11	36	1	0	4.38e-07	5.23e-07	11	36				
MBD5	55777	broad.mit.edu	37	2	149247953	149247953	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:149247953C>A	ENST00000407073.1	+	12	5050	c.4053C>A	c.(4051-4053)agC>agA	p.S1351R	MBD5_ENST00000404807.1_Missense_Mutation_p.S1584R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1351					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGTGCCTAGCCCTTCAGATG	0.408																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(4051-4053)AGC>AGA		methyl-CpG binding domain protein 5							88.0	90.0	90.0					2																	149247953		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247953C>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4053C>A	2.37:g.149247953C>A	ENSP00000386049:p.Ser1351Arg					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.S1351R|MBD5_uc002two.2_Missense_Mutation_p.S609R|MBD5_uc002twp.2_Missense_Mutation_p.S401R	p.S1351R	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5041	+			1351					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.4053C>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896613	0.52121	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.62105	0.17;0.05	5.81	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.64114	0.2569	N	0.24115	0.695	0.47511	D	0.999442	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.65294	-0.6203	10	0.87932	D	0	-7.8646	8.1088	0.30903	0.0:0.6946:0.0:0.3054	.	1584;1351	E9PHH0;Q9P267	.;MBD5_HUMAN	R	1351;1584	ENSP00000386049:S1351R;ENSP00000384672:S1584R	ENSP00000384672:S1584R	S	+	3	2	MBD5	148964423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.354000	0.34056	0.783000	0.33636	0.655000	0.94253	AGC		0.408	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			21	47	1	0	1.02e-10	1.32e-10	21	47				
SLC4A10	57282	broad.mit.edu	37	2	162751316	162751316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:162751316C>G	ENST00000446997.1	+	11	1415	c.1322C>G	c.(1321-1323)cCc>cGc	p.P441R	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P411R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P411R|SLC4A10_ENST00000375514.5_Missense_Mutation_p.P422R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P441R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	441					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ATAGAGCCTCCCAAAAATGTT	0.328																																						uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(1321-1323)CCC>CGC		solute carrier family 4, sodium bicarbonate							118.0	110.0	112.0					2																	162751316		1812	4077	5889	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751316C>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1322C>G	2.37:g.162751316C>G	ENSP00000393066:p.Pro441Arg					SLC4A10_uc010fpa.1_Missense_Mutation_p.P453R|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.P411R|SLC4A10_uc010zcs.1_Missense_Mutation_p.P422R	p.P441R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			11	1506	+			441			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1322C>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539713	0.85917	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	M	0.91300	3.195	0.80722	D	1	D;B;D;D	0.89917	1.0;0.431;1.0;1.0	D;B;D;D	0.97110	1.0;0.248;1.0;0.999	D	0.93466	0.6815	10	0.87932	D	0	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	422;441;411;441	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	R	422;411;411;410;441;441;440	ENSP00000364664:P422R;ENSP00000395797:P411R;ENSP00000272716:P411R;ENSP00000393066:P441R;ENSP00000404486:P441R	ENSP00000272716:P411R	P	+	2	0	SLC4A10	162459562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.686000	0.91538	0.655000	0.94253	CCC		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		18	57	0	0	0	0	18	57				
G6PC2	57818	broad.mit.edu	37	2	169764237	169764237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:169764237C>A	ENST00000375363.3	+	5	808	c.716C>A	c.(715-717)gCc>gAc	p.A239D	G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	239					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GTGCCCATAGCCAAAAAGTGG	0.512																																						uc002uem.2		NA																	0				pancreas(1)	1						c.(715-717)GCC>GAC		islet-specific glucose-6-phosphatase-related							160.0	136.0	144.0					2																	169764237		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764237C>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.716C>A	2.37:g.169764237C>A	ENSP00000364512:p.Ala239Asp					G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.A123D	p.A239D	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN			5	808	+			239			Lumenal (Potential).		E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.716C>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298848	0.95574	.	.	ENSG00000152254	ENST00000375363	T	0.81078	-1.45	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	D	0.91369	0.7277	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91797	0.5448	10	0.87932	D	0	-15.2722	20.1785	0.98192	0.0:1.0:0.0:0.0	.	239	Q9NQR9	G6PC2_HUMAN	D	239	ENSP00000364512:A239D	ENSP00000364512:A239D	A	+	2	0	G6PC2	169472483	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.685000	0.84117	2.773000	0.95371	0.655000	0.94253	GCC		0.512	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		30	59	1	0	8.17e-17	1.14e-16	30	59				
LRP2	4036	broad.mit.edu	37	2	170129512	170129512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:170129512C>A	ENST00000263816.3	-	15	2326	c.2041G>T	c.(2041-2043)Gat>Tat	p.D681Y	LRP2_ENST00000443831.1_Missense_Mutation_p.D612Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	681	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCATCATTATCTGTTCTGTGG	0.463																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2041-2043)GAT>TAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						187.0	174.0	178.0					2																	170129512		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170129512C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2041G>T	2.37:g.170129512C>A	ENSP00000263816:p.Asp681Tyr					LRP2_uc010zdf.1_Missense_Mutation_p.D612Y	p.D681Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	15	2254	-			681			EGF-like 3.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2041G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409391	0.83340	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94758	-2.6;-3.51	5.5	4.6	0.57074	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	M	0.70275	2.135	0.45995	D	0.998808	D;D	0.60575	0.988;0.978	P;P	0.61132	0.884;0.755	D	0.96426	0.9315	10	0.59425	D	0.04	.	15.925	0.79609	0.1432:0.8568:0.0:0.0	.	612;681	E9PC35;P98164	.;LRP2_HUMAN	Y	681;612	ENSP00000263816:D681Y;ENSP00000409813:D612Y	ENSP00000263816:D681Y	D	-	1	0	LRP2	169837758	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	5.988000	0.70579	1.403000	0.46800	0.650000	0.86243	GAT		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		48	116	1	0	8e-19	1.13e-18	48	116				
MYO3B	140469	broad.mit.edu	37	2	171259494	171259494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:171259494G>A	ENST00000408978.4	+	19	2409	c.2266G>A	c.(2266-2268)Gct>Act	p.A756T	MYO3B_ENST00000409044.3_Missense_Mutation_p.A756T|MYO3B_ENST00000334231.6_Missense_Mutation_p.A765T|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	756	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATGTTTTTGCTCTTGAGCA	0.398																																						uc002ufy.2		NA																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(2266-2268)GCT>ACT		myosin IIIB isoform 2							109.0	99.0	102.0					2																	171259494		1870	4108	5978	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171259494G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2266G>A	2.37:g.171259494G>A	ENSP00000386213:p.Ala756Thr					MYO3B_uc002ufv.2_Missense_Mutation_p.A743T|MYO3B_uc010fqb.1_Missense_Mutation_p.A743T|MYO3B_uc002ufz.2_Missense_Mutation_p.A756T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.A756T	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			19	2409	+			756			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2266G>A	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252450	0.59212	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	6.02	6.02	0.97574	Myosin head, motor domain (2);	0.044149	0.85682	D	0.000000	D	0.85539	0.5720	L	0.27053	0.805	0.80722	D	1	B;B;B	0.33919	0.128;0.317;0.432	B;B;B	0.42625	0.166;0.124;0.393	T	0.82327	-0.0512	10	0.36615	T	0.2	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	756;756;756	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	T	756;756;755;765;765	ENSP00000386497:A756T;ENSP00000386213:A756T;ENSP00000446237:A765T;ENSP00000335100:A765T	ENSP00000314213:A755T	A	+	1	0	MYO3B	170967740	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.830000	0.99415	2.865000	0.98341	0.655000	0.94253	GCT		0.398	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			5	31	0	0	0	0	5	31				
ZNF385B	151126	broad.mit.edu	37	2	180409678	180409678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:180409678G>A	ENST00000410066.1	-	4	875	c.272C>T	c.(271-273)aCt>aTt	p.T91I	ZNF385B_ENST00000409343.1_Missense_Mutation_p.T15I|ZNF385B_ENST00000336917.5_5'UTR|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	91	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGGAAGGGTAGTAGTGTGGCA	0.448																																					Colon(155;204 2491 32774 51842)	uc002unn.3		NA																	0				ovary(1)	1						c.(271-273)ACT>ATT		zinc finger protein 385B isoform 1							174.0	149.0	158.0					2																	180409678		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180409678G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.272C>T	2.37:g.180409678G>A	ENSP00000386845:p.Thr91Ile					ZNF385B_uc002unj.2_5'UTR|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_5'UTR|ZNF385B_uc002unm.2_Missense_Mutation_p.T15I	p.T91I	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		4	876	-			91					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.272C>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099625	0.56183	.	.	ENSG00000144331	ENST00000410066;ENST00000409343;ENST00000439340	T;T;T	0.45668	1.49;1.51;0.89	5.87	4.99	0.66335	.	0.454213	0.27362	N	0.019718	T	0.36248	0.0960	L	0.36672	1.1	0.80722	D	1	B;B	0.29085	0.232;0.078	B;B	0.25759	0.063;0.06	T	0.16808	-1.0390	10	0.52906	T	0.07	-4.0506	16.7674	0.85528	0.0:0.0:0.8698:0.1302	.	91;15	Q569K4;Q569K4-2	Z385B_HUMAN;.	I	91;15;9	ENSP00000386845:T91I;ENSP00000386379:T15I;ENSP00000399198:T9I	ENSP00000386379:T15I	T	-	2	0	ZNF385B	180117923	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	3.735000	0.55044	1.613000	0.50231	0.655000	0.94253	ACT		0.448	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		37	88	0	0	0	0	37	88				
ITGA4	3676	broad.mit.edu	37	2	182395331	182395331	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:182395331G>C	ENST00000397033.2	+	24	3049	c.2619G>C	c.(2617-2619)ttG>ttC	p.L873F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	873					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGCAGACCTTGAAAGGCATAG	0.413																																						uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2617-2619)TTG>TTC		integrin alpha 4 precursor	Natalizumab(DB00108)						198.0	176.0	183.0					2																	182395331		1894	4125	6019	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182395331G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2619G>C	2.37:g.182395331G>C	ENSP00000380227:p.Leu873Phe					ITGA4_uc002unv.2_Missense_Mutation_p.L118F	p.L873F	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		24	3382	+			873			Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2619G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	7.433	0.639089	0.14386	.	.	ENSG00000115232	ENST00000397033	T	0.47528	0.84	5.45	-5.11	0.02901	Integrin alpha-2 (1);	0.420814	0.26190	N	0.025815	T	0.15696	0.0378	N	0.10809	0.05	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.23511	-1.0186	10	0.09590	T	0.72	.	2.1437	0.03781	0.452:0.2316:0.1983:0.1182	.	873	P13612	ITA4_HUMAN	F	873	ENSP00000380227:L873F	ENSP00000380227:L873F	L	+	3	2	ITGA4	182103576	0.382000	0.25148	0.001000	0.08648	0.020000	0.10135	-0.379000	0.07437	-0.676000	0.05238	-0.300000	0.09419	TTG		0.413	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			23	48	0	0	0	0	23	48				
COL3A1	1281	broad.mit.edu	37	2	189849935	189849935	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:189849935C>A	ENST00000304636.3	+	3	465	c.295C>A	c.(295-297)Cct>Act	p.P99T	COL3A1_ENST00000317840.5_Missense_Mutation_p.P99T	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	99					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TACTCGCCCTCCTAATGGTCA	0.343																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(295-297)CCT>ACT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						98.0	98.0	98.0					2																	189849935		2203	4299	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189849935C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.295C>A	2.37:g.189849935C>A	ENSP00000304408:p.Pro99Thr						p.P99T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		3	412	+			99					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.295C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752792	0.49362	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90324	-2.51;-2.65	5.28	0.0168	0.14110	.	0.000000	0.45606	D	0.000346	D	0.84946	0.5585	M	0.70275	2.135	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.67624	-0.5623	10	0.19147	T	0.46	.	4.0705	0.09880	0.1197:0.3939:0.3494:0.1369	.	99	P02461	CO3A1_HUMAN	T	99	ENSP00000304408:P99T;ENSP00000315243:P99T	ENSP00000304408:P99T	P	+	1	0	COL3A1	189558180	0.005000	0.15991	0.000000	0.03702	0.904000	0.53231	0.182000	0.16900	-0.202000	0.10268	0.313000	0.20887	CCT		0.343	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		22	36	1	0	6.33e-13	8.47e-13	22	36				
GTF3C3	9330	broad.mit.edu	37	2	197640813	197640813	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:197640813C>G	ENST00000263956.3	-	12	1705	c.1616G>C	c.(1615-1617)cGt>cCt	p.R539P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	539					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAGAGTAGAACGATGAAGCAA	0.323																																						uc002uts.2		NA																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(1615-1617)CGT>CCT		general transcription factor IIIC, polypeptide							115.0	110.0	111.0					2																	197640813		2203	4296	6499	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197640813C>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1616G>C	2.37:g.197640813C>G	ENSP00000263956:p.Arg539Pro					GTF3C3_uc010zgu.1_Missense_Mutation_p.R510P	p.R539P	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			12	1706	-			539					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1616G>C	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448362	0.63178	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.56611	0.45	5.05	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	N	0.19112	0.55	0.80722	D	1	P	0.42039	0.769	B	0.42245	0.381	T	0.44832	-0.9302	10	0.54805	T	0.06	-4.7657	14.0086	0.64481	0.0:0.9269:0.0:0.0731	.	539	Q9Y5Q9	TF3C3_HUMAN	P	539;62	ENSP00000263956:R539P	ENSP00000263956:R539P	R	-	2	0	GTF3C3	197349058	1.000000	0.71417	0.996000	0.52242	0.495000	0.33615	7.077000	0.76814	1.491000	0.48482	0.655000	0.94253	CGT		0.323	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			23	51	0	0	0	0	23	51				
ABI2	10152	broad.mit.edu	37	2	204255845	204255845	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:204255845T>A	ENST00000422511.2	+	5	588	c.557T>A	c.(556-558)aTg>aAg	p.M186K	ABI2_ENST00000430418.1_Missense_Mutation_p.M180K|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.M180K|ABI2_ENST00000261016.6_Missense_Mutation_p.M135K|ABI2_ENST00000295851.5_Missense_Mutation_p.M186K|ABI2_ENST00000424558.1_Missense_Mutation_p.M180K|ABI2_ENST00000261018.7_Missense_Mutation_p.M21K			Q9NYB9	ABI2_HUMAN	abl-interactor 2	186	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGTCCCCCTATGTCAGGGAAA	0.388																																						uc002vaa.2		NA																	0					0						c.(556-558)ATG>AAG		abl interactor 2							38.0	40.0	39.0					2																	204255845		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204255845T>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.557T>A	2.37:g.204255845T>A	ENSP00000396249:p.Met186Lys					ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Missense_Mutation_p.M180K|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.M180K|ABI2_uc010zij.1_Missense_Mutation_p.M124K|ABI2_uc002vab.2_Missense_Mutation_p.M135K|ABI2_uc010zik.1_Missense_Mutation_p.M21K|ABI2_uc010zil.1_Missense_Mutation_p.M21K|ABI2_uc010zim.1_Missense_Mutation_p.M21K|ABI2_uc002vac.2_Missense_Mutation_p.M21K	p.M186K	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			5	792	+			186			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.557T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.07|18.07	3.541879|3.541879	0.65198|0.65198	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591;ENST00000454023|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	.|D;D;D;D;D;D;D;D	.|0.94758	.|-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.262066	.|0.53938	.|D	.|0.000052	D|D	0.92166|0.92166	0.7516|0.7516	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B;B;B	.|0.31026	.|0.076;0.031;0.084;0.032;0.304;0.076;0.125;0.202;0.026	.|B;B;B;B;B;B;B;B;B	.|0.29353	.|0.014;0.014;0.031;0.028;0.101;0.014;0.068;0.047;0.059	D|D	0.91373|0.91373	0.5121|0.5121	5|10	.|0.87932	.|D	.|0	-2.2467|-2.2467	15.9348|15.9348	0.79694|0.79694	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|21;21;21;124;180;180;135;186;180	.|B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;.;.;.;ABI2_HUMAN;.	S|K	52;27|186;180;180;180;135;186;186;21	.|ENSP00000295851:M186K;ENSP00000261017:M180K;ENSP00000408898:M180K;ENSP00000391433:M180K;ENSP00000261016:M135K;ENSP00000414703:M186K;ENSP00000396249:M186K;ENSP00000261018:M21K	.|ENSP00000261016:M135K	C|M	+|+	1|2	0|0	ABI2|ABI2	203964090|203964090	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.983000|0.983000	0.72400|0.72400	5.686000|5.686000	0.68211|0.68211	2.153000|2.153000	0.67306|0.67306	0.482000|0.482000	0.46254|0.46254	TGT|ATG		0.388	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		5	22	0	0	0	0	5	22				
ERBB4	2066	broad.mit.edu	37	2	212530075	212530075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:212530075T>A	ENST00000342788.4	-	15	2154	c.1844A>T	c.(1843-1845)cAc>cTc	p.H615L	ERBB4_ENST00000402597.1_Missense_Mutation_p.H615L|ERBB4_ENST00000436443.1_Missense_Mutation_p.H615L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	615	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATGGCATGGGTGGCACTCCCG	0.473										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1843-1845)CAC>CTC		v-erb-a erythroblastic leukemia viral oncogene							159.0	140.0	146.0					2																	212530075		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530075T>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1844A>T	2.37:g.212530075T>A	ENSP00000342235:p.His615Leu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.H615L|ERBB4_uc010zji.1_Missense_Mutation_p.H615L|ERBB4_uc010zjj.1_Missense_Mutation_p.H615L|ERBB4_uc010fut.1_Missense_Mutation_p.H615L	p.H615L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1942	-		Renal(323;0.06)|Lung NSC(271;0.197)	615			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1844A>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.91|16.91	3.252845|3.252845	0.59212|0.59212	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48466|0.48466	0.1501|0.1501	N|N	0.13235|0.13235	0.315|0.315	0.80722|0.80722	D|D	1|1	D;B;B;D;D|.	0.89917|.	1.0;0.031;0.02;1.0;1.0|.	D;B;B;D;D|.	0.85130|.	0.997;0.019;0.003;0.997;0.992|.	T|T	0.45775|0.45775	-0.9238|-0.9238	10|5	0.39692|.	T|.	0.17|.	.|.	15.7153|15.7153	0.77663|0.77663	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	615;615;474;615;615|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	L|S	615|615	ENSP00000342235:H615L;ENSP00000403204:H615L;ENSP00000385565:H615L|.	ENSP00000342235:H615L|.	H|T	-|-	2|1	0|0	ERBB4|ERBB4	212238320|212238320	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.968000|0.968000	0.65278|0.65278	6.154000|6.154000	0.71826|0.71826	2.127000|2.127000	0.65507|0.65507	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.473	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		14	43	0	0	0	0	14	43				
SPAG16	79582	broad.mit.edu	37	2	214794821	214794821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:214794821T>C	ENST00000331683.5	+	12	1447	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	SPAG16_ENST00000374309.3_Missense_Mutation_p.V357A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	451					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGCAATTTTGTGGCTTCCTCC	0.423																																						uc002veq.2		NA																	0				ovary(1)|skin(1)	2						c.(1351-1353)GTG>GCG		sperm associated antigen 16 isoform 1							90.0	92.0	92.0					2																	214794821		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794821T>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1352T>C	2.37:g.214794821T>C	ENSP00000332592:p.Val451Ala					SPAG16_uc010fuz.1_Missense_Mutation_p.V302A|SPAG16_uc002ver.2_Missense_Mutation_p.V397A|SPAG16_uc010zjk.1_Missense_Mutation_p.V357A	p.V451A	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1444	+		Renal(323;0.00461)	451			WD 3.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1352T>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775408	0.70107	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.62364	0.03;0.03	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.342769	0.23752	N	0.044918	T	0.69967	0.3170	L	0.38531	1.155	0.46849	D	0.99922	D;D;D;D	0.71674	0.995;0.998;0.987;0.995	D;D;P;D	0.66716	0.924;0.946;0.9;0.924	T	0.72443	-0.4292	10	0.62326	D	0.03	.	14.3515	0.66705	0.0:0.0:0.0:1.0	.	357;302;391;451	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	A	451;357	ENSP00000332592:V451A;ENSP00000363428:V357A	ENSP00000332592:V451A	V	+	2	0	SPAG16	214503066	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.385000	0.73182	2.057000	0.61298	0.528000	0.53228	GTG		0.423	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		28	41	0	0	0	0	28	41				
CUL3	8452	broad.mit.edu	37	2	225368493	225368493	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225368493A>C	ENST00000264414.4	-	9	1591	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	CUL3_ENST00000409096.1_Missense_Mutation_p.L394R|CUL3_ENST00000409777.1_Missense_Mutation_p.L394R|CUL3_ENST00000344951.4_Missense_Mutation_p.L352R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	418					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACCTAAAAAGGACCATTGC	0.303																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(1252-1254)CTT>CGT		cullin 3							110.0	101.0	104.0					2																	225368493		2202	4296	6498	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225368493A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1253T>G	2.37:g.225368493A>C	ENSP00000264414:p.Leu418Arg					CUL3_uc010zls.1_Missense_Mutation_p.L352R|CUL3_uc010fwy.1_Missense_Mutation_p.L424R	p.L418R	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	9	1637	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	418					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.1253T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642107	0.87859	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	H	0.97103	3.94	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.988;0.993;0.993	D	0.94638	0.7828	10	0.87932	D	0	.	15.9103	0.79467	1.0:0.0:0.0:0.0	.	352;396;418	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	418;352;394;394	ENSP00000264414:L418R;ENSP00000343601:L352R;ENSP00000387200:L394R;ENSP00000386525:L394R	ENSP00000264414:L418R	L	-	2	0	CUL3	225076737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.145000	0.66743	0.528000	0.53228	CTT		0.303	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			4	13	0	0	0	0	4	13				
DOCK10	55619	broad.mit.edu	37	2	225717743	225717743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:225717743G>T	ENST00000258390.7	-	17	2052	c.1985C>A	c.(1984-1986)aCa>aAa	p.T662K	DOCK10_ENST00000409592.3_Missense_Mutation_p.T656K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	662					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACAATACTTTGTTGAATCGTA	0.368																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(1984-1986)ACA>AAA		dedicator of cytokinesis 10							130.0	123.0	125.0					2																	225717743		1820	4084	5904	SO:0001583	missense	55619						GTP binding	g.chr2:225717743G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1985C>A	2.37:g.225717743G>T	ENSP00000258390:p.Thr662Lys					DOCK10_uc002vob.2_Missense_Mutation_p.T656K	p.T662K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	17	2224	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	662					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1985C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139822	0.56936	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19394	2.15;2.16	5.28	5.28	0.74379	.	0.097634	0.64402	D	0.000001	T	0.20981	0.0505	L	0.50333	1.59	0.40411	D	0.979746	P;B	0.38300	0.626;0.306	B;B	0.36666	0.23;0.075	T	0.04811	-1.0925	10	0.07813	T	0.8	.	19.2785	0.94042	0.0:0.0:1.0:0.0	.	662;656	Q96BY6;B3FL70	DOC10_HUMAN;.	K	656;662	ENSP00000386694:T656K;ENSP00000258390:T662K	ENSP00000258390:T662K	T	-	2	0	DOCK10	225425987	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.586000	0.82596	2.635000	0.89317	0.453000	0.30009	ACA		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			22	38	1	0	1.28e-07	1.54e-07	22	38				
COL6A3	1293	broad.mit.edu	37	2	238249123	238249123	+	Silent	SNP	G	G	A	rs571287679		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238249123G>A	ENST00000295550.4	-	38	8888	c.8436C>T	c.(8434-8436)ttC>ttT	p.F2812F	COL6A3_ENST00000346358.4_Silent_p.F2612F|COL6A3_ENST00000347401.3_Silent_p.F2611F|COL6A3_ENST00000409809.1_Silent_p.F2606F|COL6A3_ENST00000472056.1_Silent_p.F2205F|COL6A3_ENST00000353578.4_Silent_p.F2606F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2812	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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.F2812F(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)		ACAGCCTCCCGAAGCGCATCA	0.547													g|||	1	0.000199681	0.0	0.0014	5008	,	,		22092	0.0		0.0	False		,,,				2504	0.0					uc002vwl.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8434-8436)TTC>TTT		alpha 3 type VI collagen isoform 1 precursor							75.0	68.0	70.0					2																	238249123		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249123G>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.8436C>T	2.37:g.238249123G>A						COL6A3_uc002vwo.2_Silent_p.F2606F|COL6A3_uc010znj.1_Silent_p.F2205F|COL6A3_uc002vwj.2_Silent_p.F193F	p.F2812F	NM_004369	NP_004360	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)	38	8721	-		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)	2812			VWFA 12.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8436C>T	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		20	35	0	0	0	0	20	35				
COL6A3	1293	broad.mit.edu	37	2	238283189	238283189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr2:238283189G>T	ENST00000295550.4	-	8	3997	c.3545C>A	c.(3544-3546)cCg>cAg	p.P1182Q	COL6A3_ENST00000346358.4_Missense_Mutation_p.P982Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.P775Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.P981Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.P976Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.P575Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.P976Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.P976Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1182	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			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)		GGCAAAGTCCGGGATGAAGGA	0.622																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3544-3546)CCG>CAG		alpha 3 type VI collagen isoform 1 precursor							93.0	72.0	79.0					2																	238283189		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283189G>T	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.3545C>A	2.37:g.238283189G>T	ENSP00000295550:p.Pro1182Gln					COL6A3_uc002vwo.2_Missense_Mutation_p.P976Q|COL6A3_uc010znj.1_Missense_Mutation_p.P575Q|COL6A3_uc002vwq.2_Missense_Mutation_p.P976Q|COL6A3_uc002vwr.2_Missense_Mutation_p.P775Q	p.P1182Q	NM_004369	NP_004360	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)	8	3830	-		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)	1182			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3545C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307413	0.81247	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.97	4.97	0.65823	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000082	D	0.92760	0.7698	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.93570	0.6903	10	0.72032	D	0.01	.	18.6288	0.91352	0.0:0.0:1.0:0.0	.	575;775;976;976;1182	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	Q	1182;981;976;575;976;982;976;775	ENSP00000295550:P1182Q;ENSP00000315609:P981Q;ENSP00000315873:P976Q;ENSP00000418285:P575Q;ENSP00000386844:P976Q;ENSP00000295546:P982Q;ENSP00000375861:P976Q;ENSP00000375860:P775Q	ENSP00000295550:P1182Q	P	-	2	0	COL6A3	237947928	1.000000	0.71417	0.951000	0.38953	0.682000	0.39822	9.157000	0.94714	2.477000	0.83638	0.655000	0.94253	CCG		0.622	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		23	39	1	0	3.88e-16	5.37e-16	23	39				
SIGLEC1	6614	broad.mit.edu	37	20	3679898	3679898	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3679898G>C	ENST00000344754.4	-	7	1736	c.1737C>G	c.(1735-1737)gaC>gaG	p.D579E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D579E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	579	Ig-like C2-type 5.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACTGTGGCCGTCCCGGGCCC	0.692																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(1735-1737)GAC>GAG		sialoadhesin precursor							14.0	14.0	14.0					20																	3679898		2200	4295	6495	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3679898G>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1737C>G	20.37:g.3679898G>C	ENSP00000341141:p.Asp579Glu					SIGLEC1_uc002wiz.3_Missense_Mutation_p.D579E	p.D579E	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			7	1737	-			579			Ig-like C2-type 5.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1737C>G	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633461	0.29068	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12147	2.71;2.71	5.46	-5.08	0.02929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165665	0.28589	N	0.014818	T	0.19208	0.0461	M	0.61703	1.905	0.09310	N	0.999997	P;P	0.47545	0.897;0.875	P;B	0.51055	0.657;0.421	T	0.07558	-1.0766	10	0.62326	D	0.03	.	12.4658	0.55757	0.6967:0.0:0.3033:0.0	.	579;579	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	E	579	ENSP00000341141:D579E;ENSP00000202578:D579E	ENSP00000202578:D579E	D	-	3	2	SIGLEC1	3627898	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-1.342000	0.02645	-0.927000	0.03766	-0.140000	0.14226	GAC		0.692	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		7	15	0	0	0	0	7	15				
MAVS	57506	broad.mit.edu	37	20	3845384	3845384	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:3845384C>T	ENST00000428216.2	+	6	1235	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.L228L	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	369					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGGTGCTCACCAAGGTGT	0.592																																						uc002wjw.3		NA																	0					0						c.(1105-1107)CTC>CTT		virus-induced signaling adapter							110.0	102.0	104.0					20																	3845384		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845384C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.1107C>T	20.37:g.3845384C>T						MAVS_uc002wjx.3_Silent_p.L228L|MAVS_uc002wjy.3_Silent_p.L67L	p.L369L	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			6	1276	+			369			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.1107C>T	CCDS33437.1																																																																																				0.592	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		25	63	0	0	0	0	25	63				
AAR2	25980	broad.mit.edu	37	20	34828211	34828211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:34828211A>T	ENST00000373932.3	+	2	767	c.421A>T	c.(421-423)Agc>Tgc	p.S141C	AAR2_ENST00000397286.3_Missense_Mutation_p.S141C|AAR2_ENST00000320849.4_Missense_Mutation_p.S141C	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	141																	CAACTTCATCAGCGAAGCCAC	0.567																																						uc002xfc.1		NA																	0					0						c.(421-423)AGC>TGC		hypothetical protein LOC25980							119.0	115.0	116.0					20																	34828211		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34828211A>T		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.421A>T	20.37:g.34828211A>T	ENSP00000363043:p.Ser141Cys					C20orf4_uc002xfd.1_Missense_Mutation_p.S141C|C20orf4_uc002xfe.1_Missense_Mutation_p.S141C	p.S141C	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	514	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	141					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.421A>T	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458937	0.63401	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.49139	0.79;0.79;0.79	5.02	5.02	0.67125	.	0.235162	0.56097	D	0.000027	T	0.62756	0.2454	M	0.69823	2.125	0.37325	D	0.909725	D;D	0.71674	0.998;0.965	P;P	0.62649	0.905;0.779	T	0.71144	-0.4678	10	0.87932	D	0	.	10.4537	0.44537	0.9211:0.0:0.0789:0.0	.	141;141	A2A2Q9;Q9Y312	.;CT004_HUMAN	C	141	ENSP00000380455:S141C;ENSP00000313674:S141C;ENSP00000363043:S141C	ENSP00000313674:S141C	S	+	1	0	C20orf4	34291625	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	8.327000	0.90012	2.236000	0.73375	0.528000	0.53228	AGC		0.567	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		78	81	0	0	0	0	78	81				
PTPN1	5770	broad.mit.edu	37	20	49196356	49196356	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr20:49196356C>G	ENST00000371621.3	+	8	1155	c.981C>G	c.(979-981)ttC>ttG	p.F327L	PTPN1_ENST00000541713.1_Missense_Mutation_p.F254L|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	327					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GCAGGGAGTTCTTCCCAAATC	0.572											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xvl.2		NA																	0					0						c.(979-981)TTC>TTG		protein tyrosine phosphatase, non-receptor type	Clodronate(DB00720)|Tiludronate(DB01133)						65.0	75.0	72.0					20																	49196356		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49196356C>G		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.981C>G	20.37:g.49196356C>G	ENSP00000360683:p.Phe327Leu		OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	PTPN1_uc010zys.1_Missense_Mutation_p.F254L	p.F327L	NM_002827	NP_002818	P18031	PTN1_HUMAN			8	1155	+		Lung NSC(126;0.163)	327					Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.981C>G	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243164	0.22796	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04603	4.18;3.59	5.87	5.87	0.94306	.	0.079027	0.53938	N	0.000056	T	0.03178	0.0093	N	0.19112	0.55	0.43287	D	0.995262	B	0.02656	0.0	B	0.04013	0.001	T	0.37220	-0.9715	10	0.06236	T	0.91	.	10.5651	0.45167	0.0:0.8576:0.0:0.1424	.	327	P18031	PTN1_HUMAN	L	327;254	ENSP00000360683:F327L;ENSP00000437732:F254L	ENSP00000360683:F327L	F	+	3	2	PTPN1	48629763	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.073000	0.41519	2.785000	0.95823	0.655000	0.94253	TTC		0.572	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			34	125	0	0	0	0	34	125				
LIPI	149998	broad.mit.edu	37	21	15561702	15561702	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:15561702C>A	ENST00000536861.1	-	2	84	c.85G>T	c.(85-87)Gta>Tta	p.V29L	LIPI_ENST00000344577.2_Missense_Mutation_p.V50L			Q6XZB0	LIPI_HUMAN	lipase, member I	29					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAATCCTTTACACTTAGCTGA	0.358																																						uc002yjm.2		NA																	0				ovary(2)	2						c.(148-150)GTA>TTA		lipase, member I							83.0	87.0	86.0					21																	15561702		2202	4299	6501	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561702C>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.85G>T	21.37:g.15561702C>A	ENSP00000440381:p.Val29Leu					LIPI_uc010gkw.1_5'UTR	p.V50L	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	158	-			29					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.148G>T		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.338560	0.00224	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90955	-2.76;-2.76	5.3	-6.22	0.02058	.	0.423542	0.28098	N	0.016604	T	0.66025	0.2748	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66284	-0.5962	10	0.10902	T	0.67	.	0.7766	0.01033	0.2244:0.2746:0.1479:0.3531	.	50	Q6XZB0-2	.	L	50;29	ENSP00000343331:V50L;ENSP00000440381:V29L	ENSP00000343331:V50L	V	-	1	0	LIPI	14483573	0.000000	0.05858	0.003000	0.11579	0.192000	0.23643	-1.465000	0.02357	-1.436000	0.01970	-1.731000	0.00696	GTA		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		22	36	1	0	1.23e-08	1.52e-08	22	36				
NCAM2	4685	broad.mit.edu	37	21	22696776	22696776	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:22696776C>T	ENST00000400546.1	+	6	942	c.693C>T	c.(691-693)tcC>tcT	p.S231S	NCAM2_ENST00000284894.7_Silent_p.S89S|NCAM2_ENST00000535285.1_Silent_p.S256S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	231	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGACATTTTCCTGCAGGGCCT	0.493																																						uc002yld.1		NA																	0				ovary(4)	4						c.(691-693)TCC>TCT		neural cell adhesion molecule 2 precursor							101.0	102.0	102.0					21																	22696776		1931	4132	6063	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22696776C>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.693C>T	21.37:g.22696776C>T						NCAM2_uc011acb.1_Silent_p.S89S|NCAM2_uc011acc.1_Silent_p.S256S	p.S231S	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	6	942	+		Lung NSC(9;0.195)	231			Ig-like C2-type 3.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.693C>T	CCDS42910.1																																																																																				0.493	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		17	56	0	0	0	0	17	56				
KRTAP11-1	337880	broad.mit.edu	37	21	32253791	32253791	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:32253791C>A	ENST00000332378.4	-	1	83	c.53G>T	c.(52-54)cGc>cTc	p.R18L		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AACAATGCAGCGTCCTCCAAT	0.547																																						uc002yov.2		NA																	0				pancreas(1)	1						c.(52-54)CGC>CTC		keratin associated protein 11-1							96.0	89.0	91.0					21																	32253791		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253791C>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.53G>T	21.37:g.32253791C>A	ENSP00000330720:p.Arg18Leu						p.R18L	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	84	-			18					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.53G>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	1.344	-0.593398	0.03771	.	.	ENSG00000182591	ENST00000332378	T	0.03004	4.08	5.4	-1.36	0.09085	.	0.608443	0.16373	N	0.217235	T	0.02193	0.0068	L	0.31664	0.95	0.09310	N	0.999992	B	0.23540	0.087	B	0.22753	0.041	T	0.48115	-0.9063	10	0.10636	T	0.68	-3.1116	4.3807	0.11293	0.1126:0.5832:0.1119:0.1924	.	18	Q8IUC1	KR111_HUMAN	L	18	ENSP00000330720:R18L	ENSP00000330720:R18L	R	-	2	0	KRTAP11-1	31175662	0.005000	0.15991	0.023000	0.16930	0.360000	0.29518	-0.628000	0.05515	-0.187000	0.10516	0.650000	0.86243	CGC		0.547	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			34	59	1	0	2.49e-23	3.56e-23	34	59				
FTCD	10841	broad.mit.edu	37	21	47570433	47570433	+	Missense_Mutation	SNP	G	G	C	rs149667449	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr21:47570433G>C	ENST00000291670.5	-	6	686	c.643C>G	c.(643-645)Cgt>Ggt	p.R215G	FTCD_ENST00000359679.2_Missense_Mutation_p.R215G|FTCD_ENST00000355384.2_Missense_Mutation_p.R215G|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.R215G|FTCD_ENST00000397748.1_Missense_Mutation_p.R215G|FTCD_ENST00000397746.3_Missense_Mutation_p.R215G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	215	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.R215C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TTCTTCAGACGTCCTGGCTGC	0.577																																						uc002zif.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(643-645)CGT>GGT		formiminotransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						112.0	102.0	105.0					21																	47570433		2203	4299	6502	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47570433G>C	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.643C>G	21.37:g.47570433G>C	ENSP00000291670:p.Arg215Gly					FTCD_uc002zig.2_Missense_Mutation_p.R215G|FTCD_uc002zih.2_Missense_Mutation_p.R215G|FTCD_uc010gqf.2_Missense_Mutation_p.R215G|FTCD_uc010gqg.1_Missense_Mutation_p.R84G	p.R215G	NM_006657	NP_006648	O95954	FTCD_HUMAN		Colorectal(79;0.235)	6	687	-	Breast(49;0.214)		215			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.643C>G	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065133	0.20067	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.83	3.95	0.45737	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.341352	0.30940	N	0.008568	T	0.54791	0.1880	N	0.13198	0.31	0.35411	D	0.792403	B;B;B	0.27625	0.183;0.109;0.132	B;B;B	0.27262	0.078;0.047;0.049	T	0.57219	-0.7849	10	0.23891	T	0.37	.	9.607	0.39639	0.0762:0.0:0.7831:0.1406	.	215;215;215	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	G	215	ENSP00000291670:R215G;ENSP00000380856:R215G;ENSP00000352707:R215G;ENSP00000347545:R215G;ENSP00000380854:R215G;ENSP00000380851:R215G	ENSP00000291670:R215G	R	-	1	0	FTCD	46394861	0.924000	0.31332	0.908000	0.35775	0.070000	0.16714	3.638000	0.54332	1.045000	0.40225	0.650000	0.86243	CGT		0.577	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		16	46	0	0	0	0	16	46				
THAP7	80764	broad.mit.edu	37	22	21354710	21354710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:21354710C>T	ENST00000215742.4	-	4	563	c.389G>A	c.(388-390)gGc>gAc	p.G130D	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.G130D	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	130					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCCCTCGGCCCTCGGAGCA	0.622																																						uc002ztr.1		NA																	0					0						c.(388-390)GGC>GAC		THAP domain containing 7 isoform 2							8.0	11.0	10.0					22																	21354710		2071	4084	6155	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354710C>T	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.389G>A	22.37:g.21354710C>T	ENSP00000215742:p.Gly130Asp					THAP7_uc002zts.1_Missense_Mutation_p.G130D|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	p.G130D	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		5	419	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	130					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.389G>A	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816874	0.32145	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.95788	-3.81;-3.81	4.2	4.2	0.49525	.	2.302700	0.01473	N	0.016377	D	0.89494	0.6731	N	0.08118	0	0.26154	N	0.980106	B	0.11235	0.004	B	0.15484	0.013	T	0.78370	-0.2230	10	0.12430	T	0.62	-25.4708	9.6021	0.39609	0.2091:0.7909:0.0:0.0	.	130	Q9BT49	THAP7_HUMAN	D	130	ENSP00000215742:G130D;ENSP00000382084:G130D	ENSP00000215742:G130D	G	-	2	0	THAP7	19684710	0.007000	0.16637	0.993000	0.49108	0.612000	0.37316	0.508000	0.22692	2.322000	0.78497	0.491000	0.48974	GGC		0.622	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		3	8	0	0	0	0	3	8				
CABIN1	23523	broad.mit.edu	37	22	24515613	24515613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:24515613A>G	ENST00000398319.2	+	28	4965	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	CABIN1_ENST00000263119.5_Missense_Mutation_p.Y1527C|CABIN1_ENST00000405822.2_Missense_Mutation_p.Y1448C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1527					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCAGCACTATAAGAGTCTC	0.647																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(4579-4581)TAT>TGT		calcineurin binding protein 1							95.0	105.0	101.0					22																	24515613		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24515613A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4580A>G	22.37:g.24515613A>G	ENSP00000381364:p.Tyr1527Cys					CABIN1_uc002zzj.1_Missense_Mutation_p.Y1448C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1527C	p.Y1527C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			28	4707	+			1527					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4580A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817796	0.90790	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;D;T	0.81996	-1.14;-1.56;-1.14	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91311	0.5074	10	0.87932	D	0	.	15.0123	0.71557	1.0:0.0:0.0:0.0	.	1448;1527	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	C	1527;1448;1527	ENSP00000263119:Y1527C;ENSP00000384694:Y1448C;ENSP00000381364:Y1527C	ENSP00000263119:Y1527C	Y	+	2	0	CABIN1	22845613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.925000	0.92832	2.205000	0.71048	0.529000	0.55759	TAT		0.647	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		80	141	0	0	0	0	80	141				
ASPHD2	57168	broad.mit.edu	37	22	26838460	26838460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:26838460G>C	ENST00000215906.5	+	3	1360	c.922G>C	c.(922-924)Ggg>Cgg	p.G308R	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	308					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCTGGTGGTGGGGGGAGAGCC	0.552																																						uc003acg.2		NA																	0				ovary(1)	1						c.(922-924)GGG>CGG		aspartate beta-hydroxylase domain containing 2							131.0	140.0	137.0					22																	26838460		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26838460G>C	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.922G>C	22.37:g.26838460G>C	ENSP00000215906:p.Gly308Arg						p.G308R	NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN			3	1319	+			308			Lumenal (Potential).		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.922G>C	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768498	0.90020	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75124	-0.3428	10	0.87932	D	0	-27.5567	16.8517	0.85996	0.0:0.0:1.0:0.0	.	308	Q6ICH7	ASPH2_HUMAN	R	308	ENSP00000215906:G308R	ENSP00000215906:G308R	G	+	1	0	ASPHD2	25168460	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.784000	0.91818	2.517000	0.84864	0.655000	0.94253	GGG		0.552	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		51	140	0	0	0	0	51	140				
LARGE	9215	broad.mit.edu	37	22	33733754	33733754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:33733754C>A	ENST00000354992.2	-	11	1736	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	LARGE_ENST00000452586.2_Missense_Mutation_p.V188L|LARGE_ENST00000397394.2_Missense_Mutation_p.V389L|LARGE_ENST00000437602.2_Missense_Mutation_p.V389L|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	389					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGTTCTTCACCCGGAGCTTC	0.557																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1165-1167)GTG>TTG		like-glycosyltransferase							79.0	72.0	74.0					22																	33733754		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33733754C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1165G>T	22.37:g.33733754C>A	ENSP00000347088:p.Val389Leu					LARGE_uc011amd.1_Missense_Mutation_p.V188L|LARGE_uc003ane.3_Missense_Mutation_p.V389L|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Missense_Mutation_p.V321L|LARGE_uc011amf.1_Missense_Mutation_p.V389L|LARGE_uc010gwq.1_RNA	p.V389L	NM_004737	NP_004728	O95461	LARGE_HUMAN			11	1744	-		Lung NSC(1;0.219)	389			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1165G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842983	0.71488	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000397394;ENST00000452586;ENST00000437602	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.22	5.22	0.72569	.	0.121227	0.56097	D	0.000030	T	0.45034	0.1322	M	0.81942	2.565	0.80722	D	1	D;B;B	0.59357	0.985;0.019;0.165	P;B;B	0.57152	0.814;0.046;0.14	T	0.39781	-0.9597	10	0.37606	T	0.19	-8.4359	18.8007	0.92015	0.0:1.0:0.0:0.0	.	389;188;389	B7Z2I9;E9PH73;O95461	.;.;LARGE_HUMAN	L	66;66;66;389;389;188;389	ENSP00000347088:V389L;ENSP00000380549:V389L;ENSP00000407917:V188L;ENSP00000388544:V389L	ENSP00000347088:V389L	V	-	1	0	LARGE	32063754	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.253000	0.78320	2.437000	0.82529	0.655000	0.94253	GTG		0.557	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		11	27	1	0	0.000151284	0.000167562	11	27				
MYH9	4627	broad.mit.edu	37	22	36689419	36689419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:36689419C>G	ENST00000216181.5	-	30	4281	c.4051G>C	c.(4051-4053)Gcc>Ccc	p.A1351P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1351					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCC	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4051-4053)GCC>CCC		myosin, heavy polypeptide 9, non-muscle							83.0	79.0	80.0					22																	36689419		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689419C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4051G>C	22.37:g.36689419C>G	ENSP00000216181:p.Ala1351Pro						p.A1351P	NM_002473	NP_002464	P35579	MYH9_HUMAN			30	4282	-			1351			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4051G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937658	0.92458	.	.	ENSG00000100345	ENST00000216181	D	0.82433	-1.61	5.0	5.0	0.66597	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.87974	0.6313	M	0.87547	2.89	0.80722	D	1	P	0.40602	0.723	P	0.46850	0.529	D	0.89849	0.4008	10	0.87932	D	0	.	13.0464	0.58928	0.0:0.9223:0.0:0.0777	.	1351	P35579	MYH9_HUMAN	P	1351	ENSP00000216181:A1351P	ENSP00000216181:A1351P	A	-	1	0	MYH9	35019365	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.200000	0.51051	2.478000	0.83669	0.491000	0.48974	GCC		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		31	56	0	0	0	0	31	56				
GADL1	339896	broad.mit.edu	37	3	30875411	30875411	+	Silent	SNP	G	G	T	rs139652704	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:30875411G>T	ENST00000282538.5	-	11	1134	c.984C>A	c.(982-984)gcC>gcA	p.A328A	GADL1_ENST00000454381.3_Silent_p.A328A	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	328					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GTGGGTTCCAGGCCACAGAGT	0.448																																						uc003cep.2		NA																	0					0						c.(982-984)GCC>GCA		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						76.0	76.0	76.0					3																	30875411		2203	4300	6503	SO:0001819	synonymous_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30875411G>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.984C>A	3.37:g.30875411G>T						GADL1_uc003ceq.1_Silent_p.A328A	p.A328A	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			11	1031	-			328						Silent	SNP	ENST00000282538.5	37	c.984C>A	CCDS2649.2																																																																																				0.448	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		15	19	1	0	3.53e-06	4.07e-06	15	19				
CCR2	729230	broad.mit.edu	37	3	46399710	46399710	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:46399710G>T	ENST00000400888.2	+	1	731	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000292301.4_Missense_Mutation_p.R231L|CCR2_ENST00000445132.2_Missense_Mutation_p.R231L			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	231					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ACCCTGCTTCGGTGTCGAAAC	0.453																																						uc003cpn.3		NA																	0				lung(1)|breast(1)	2						c.(691-693)CGG>CTG		chemokine (C-C motif) receptor 2 isoform A							236.0	221.0	225.0					3																	46399710		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399710G>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.692G>T	3.37:g.46399710G>T	ENSP00000383681:p.Arg231Leu					CCR2_uc003cpm.3_Missense_Mutation_p.R231L	p.R231L	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1177	+			231			Cytoplasmic (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.692G>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651499	0.67472	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.42900	0.96;0.96;0.96	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.087879	0.47455	D	0.000224	T	0.57873	0.2083	M	0.91300	3.195	0.09310	N	1	B;B	0.29590	0.25;0.21	B;B	0.38500	0.275;0.188	T	0.60031	-0.7342	10	0.87932	D	0	.	12.1567	0.54081	0.079:0.0:0.921:0.0	.	231;231	P41597;Q4VBL2	CCR2_HUMAN;.	L	231	ENSP00000399285:R231L;ENSP00000292301:R231L;ENSP00000383681:R231L	ENSP00000292301:R231L	R	+	2	0	CCR2	46374714	0.014000	0.17966	0.924000	0.36721	0.996000	0.88848	1.613000	0.36900	2.511000	0.84671	0.650000	0.86243	CGG		0.453	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		103	142	1	0	1.26e-39	1.84e-39	103	142				
RNF123	63891	broad.mit.edu	37	3	49738099	49738099	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:49738099C>T	ENST00000327697.6	+	15	1378	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	RNF123_ENST00000432042.1_Silent_p.L266L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	412					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TATCGCCATCCTGAGGCATGA	0.607																																						uc003cxh.2		NA																	0				kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(1234-1236)CTG>TTG		ring finger protein 123							119.0	106.0	111.0					3																	49738099		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49738099C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1234C>T	3.37:g.49738099C>T						RNF123_uc010hky.1_Silent_p.L74L|RNF123_uc003cxi.2_RNA	p.L412L	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	15	1320	+			412					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.1234C>T	CCDS33758.1																																																																																				0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		25	38	0	0	0	0	25	38				
ACOX2	8309	broad.mit.edu	37	3	58520802	58520802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:58520802C>T	ENST00000302819.5	-	2	323	c.32G>A	c.(31-33)gGg>gAg	p.G11E	ACOX2_ENST00000459701.2_Missense_Mutation_p.G11E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	11					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CCAGGTATCCCCCAATGACAC	0.572																																						uc003dkl.2		NA																	0					0						c.(31-33)GGG>GAG		acyl-Coenzyme A oxidase 2							255.0	227.0	237.0					3																	58520802		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520802C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.32G>A	3.37:g.58520802C>T	ENSP00000307697:p.Gly11Glu						p.G11E	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	2	207	-			11					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.32G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646708	0.14516	.	.	ENSG00000168306	ENST00000459701;ENST00000302819;ENST00000474098	T;T;T	0.28666	2.59;2.59;1.6	4.54	2.73	0.32206	.	0.886792	0.09888	N	0.742749	T	0.27098	0.0664	M	0.63428	1.95	0.09310	N	1	P	0.49090	0.919	B	0.38562	0.276	T	0.16335	-1.0406	10	0.37606	T	0.19	-24.7187	5.6699	0.17717	0.1934:0.707:0.0:0.0997	.	11	Q99424	ACOX2_HUMAN	E	11	ENSP00000418562:G11E;ENSP00000307697:G11E;ENSP00000419927:G11E	ENSP00000307697:G11E	G	-	2	0	ACOX2	58495842	0.253000	0.23982	0.129000	0.21949	0.039000	0.13416	1.623000	0.37008	0.647000	0.30713	-1.119000	0.02030	GGG		0.572	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			61	106	0	0	0	0	61	106				
CNTN3	5067	broad.mit.edu	37	3	74350820	74350820	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:74350820C>A	ENST00000263665.6	-	14	1950	c.1923G>T	c.(1921-1923)gtG>gtT	p.V641V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGCCAACCCACGGAGAAAG	0.448																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1921-1923)GTG>GTT		contactin 3 precursor							163.0	152.0	156.0					3																	74350820		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350820C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1923G>T	3.37:g.74350820C>A							p.V641V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	14	2003	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	641			Fibronectin type-III 1.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1923G>T	CCDS33790.1																																																																																				0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		25	19	1	0	4.27e-12	5.66e-12	25	19				
SI	6476	broad.mit.edu	37	3	164758778	164758778	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164758778A>G	ENST00000264382.3	-	18	2171	c.2109T>C	c.(2107-2109)ttT>ttC	p.F703F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	703	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGGCTTTATAAAACAGAGTGT	0.348										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2107-2109)TTT>TTC		sucrase-isomaltase	Acarbose(DB00284)						133.0	136.0	135.0					3																	164758778		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164758778A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2109T>C	3.37:g.164758778A>G		HNSCC(35;0.089)					p.F703F	NM_001041	NP_001032	P14410	SUIS_HUMAN			18	2171	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	703			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2109T>C	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		27	74	0	0	0	0	27	74				
SI	6476	broad.mit.edu	37	3	164781266	164781266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:164781266A>G	ENST00000264382.3	-	8	933	c.871T>C	c.(871-873)Tca>Cca	p.S291P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	291	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACACCGAATGACTTTCCAGAT	0.259										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(871-873)TCA>CCA		sucrase-isomaltase	Acarbose(DB00284)						46.0	55.0	52.0					3																	164781266		2171	4235	6406	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164781266A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.871T>C	3.37:g.164781266A>G	ENSP00000264382:p.Ser291Pro	HNSCC(35;0.089)					p.S291P	NM_001041	NP_001032	P14410	SUIS_HUMAN			8	933	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	291			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.871T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284056	0.80803	.	.	ENSG00000090402	ENST00000264382	D	0.90197	-2.63	5.3	5.3	0.74995	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.95850	3.73	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	D	0.98029	1.0375	10	0.72032	D	0.01	.	15.2532	0.73564	1.0:0.0:0.0:0.0	.	291	P14410	SUIS_HUMAN	P	291	ENSP00000264382:S291P	ENSP00000264382:S291P	S	-	1	0	SI	166263960	1.000000	0.71417	0.938000	0.37757	0.912000	0.54170	5.414000	0.66405	2.015000	0.59207	0.477000	0.44152	TCA		0.259	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	42	0	0	0	0	8	42				
PIK3CA	5290	broad.mit.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCTTGGCTCTGGAAT	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		8	Substitution - Missense(8)	p.G1007R(6)|p.G1007D(2)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3019-3021)GGC>CGC		phosphoinositide-3-kinase, catalytic, alpha							114.0	103.0	106.0					3																	178951964		1886	4108	5994	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178951964G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G1007R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3176	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1007		G -> R (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3019G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	43	0	0	0	0	19	43				
CCDC39	339829	broad.mit.edu	37	3	180349272	180349272	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr3:180349272G>T	ENST00000442201.2	-	14	2102	c.1983C>A	c.(1981-1983)gcC>gcA	p.A661A	CCDC39_ENST00000273654.4_Silent_p.A745A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	661					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTACATAATAGGCCTGTGTTT	0.328																																						uc010hxe.2		NA																	0				ovary(4)	4						c.(1981-1983)GCC>GCA		coiled-coil domain containing 39							99.0	100.0	99.0					3																	180349272		1838	4088	5926	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180349272G>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1983C>A	3.37:g.180349272G>T						CCDC39_uc003fkn.2_RNA	p.A661A	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		14	2098	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		661					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1983C>A	CCDS46964.1																																																																																				0.328	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		11	40	1	0	1.59e-06	1.86e-06	11	40				
BOD1L1	259282	broad.mit.edu	37	4	13602128	13602128	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:13602128G>T	ENST00000040738.5	-	10	6531	c.6396C>A	c.(6394-6396)gcC>gcA	p.A2132A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2132						nucleus (GO:0005634)	DNA binding (GO:0003677)										CACTTCTGCTGGCAGTGAGTT	0.473																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(6394-6396)GCC>GCA		biorientation of chromosomes in cell division							72.0	66.0	68.0					4																	13602128		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602128G>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.6396C>A	4.37:g.13602128G>T						BOD1L_uc010idr.1_Silent_p.A1469A	p.A2132A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	6513	-			2132					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.6396C>A	CCDS3411.2																																																																																				0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	35	1	0	1.58e-08	1.96e-08	14	35				
ATP8A1	10396	broad.mit.edu	37	4	42588439	42588439	+	Missense_Mutation	SNP	C	C	A	rs377689629		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:42588439C>A	ENST00000381668.5	-	9	880	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G217C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	217					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAATTCTGCCAGAAATCCTC	0.343																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(649-651)GGC>TGC		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						120.0	115.0	117.0					4																	42588439		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42588439C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.649G>T	4.37:g.42588439C>A	ENSP00000371084:p.Gly217Cys					ATP8A1_uc003gws.2_Missense_Mutation_p.G217C|ATP8A1_uc011byz.1_Missense_Mutation_p.G217C	p.G217C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			9	881	-			217			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.649G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756766	0.89843	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.76186	-1.0;-1.0	6.06	5.2	0.72013	ATPase, P-type, ATPase-associated domain (1);	0.054438	0.85682	D	0.000000	D	0.87006	0.6070	M	0.79926	2.475	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.94	D;D;P	0.97110	0.951;1.0;0.844	D	0.88611	0.3156	10	0.62326	D	0.03	.	17.1719	0.86832	0.0:0.8738:0.1262:0.0	.	217;217;217	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	C	217	ENSP00000371084:G217C;ENSP00000264449:G217C	ENSP00000264449:G217C	G	-	1	0	ATP8A1	42283196	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	1.514000	0.48869	0.655000	0.94253	GGC		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		14	35	1	0	0.00316338	0.0033551	14	35				
LPHN3	23284	broad.mit.edu	37	4	62812713	62812713	+	Missense_Mutation	SNP	C	C	G	rs376555701		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:62812713C>G	ENST00000514591.1	+	15	2626	c.2297C>G	c.(2296-2298)aCg>aGg	p.T766R	LPHN3_ENST00000508946.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506720.1_Missense_Mutation_p.T834R|LPHN3_ENST00000509896.1_Missense_Mutation_p.T834R|LPHN3_ENST00000504896.1_Missense_Mutation_p.T766R|LPHN3_ENST00000506746.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.T766R|LPHN3_ENST00000511324.1_Missense_Mutation_p.T834R|LPHN3_ENST00000508693.1_Missense_Mutation_p.T834R|LPHN3_ENST00000506700.1_Missense_Mutation_p.T766R|LPHN3_ENST00000514157.1_Missense_Mutation_p.T766R|LPHN3_ENST00000507164.1_Missense_Mutation_p.T834R|LPHN3_ENST00000545650.1_Missense_Mutation_p.T766R|LPHN3_ENST00000512091.2_Missense_Mutation_p.T766R|LPHN3_ENST00000507625.1_Missense_Mutation_p.T834R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAGTTGGGAACGGAAGCTTTG	0.403																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2296-2298)ACG>AGG		latrophilin 3 precursor							255.0	238.0	243.0					4																	62812713		1884	4121	6005	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812713C>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2297C>G	4.37:g.62812713C>G	ENSP00000422533:p.Thr766Arg					LPHN3_uc003hcq.3_Missense_Mutation_p.T766R|LPHN3_uc003hct.2_Missense_Mutation_p.T159R	p.T766R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2470	+			753			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2297C>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.376425|1.376425	0.24857|0.24857	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.09630	.|2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96	5.51|5.51	4.67|4.67	0.58626|0.58626	.|Domain of unknown function DUF3497 (1);	.|0.155460	.|0.56097	.|D	.|0.000028	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.14661|0.14661	0.345|0.345	0.39509|0.39509	D|D	0.96833|0.96833	.|B;B;B	.|0.15719	.|0.014;0.014;0.006	.|B;B;B	.|0.15484	.|0.013;0.013;0.005	T|T	0.18493|0.18493	-1.0335|-1.0335	5|10	.|0.52906	.|T	.|0.07	.|.	11.3113|11.3113	0.49366|0.49366	0.0:0.8538:0.0:0.1462|0.0:0.8538:0.0:0.1462	.|.	.|766;753;766	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	K|R	223|766;766;834;834;766;766;753;766;834;834;834;766;766;766;834;834;766	.|ENSP00000423388:T766R;ENSP00000422533:T766R;ENSP00000423787:T834R;ENSP00000425033:T834R;ENSP00000424120:T766R;ENSP00000439831:T766R;ENSP00000421476:T834R;ENSP00000424030:T834R;ENSP00000421372:T834R;ENSP00000425201:T766R;ENSP00000423434:T766R;ENSP00000421627:T766R;ENSP00000420931:T834R;ENSP00000425884:T834R;ENSP00000424258:T766R	.|ENSP00000280009:T766R	N|T	+|+	3|2	2|0	LPHN3|LPHN3	62495308|62495308	0.999000|0.999000	0.42202|0.42202	0.995000|0.995000	0.50966|0.50966	0.979000|0.979000	0.70002|0.70002	3.447000|3.447000	0.52936|0.52936	1.330000|1.330000	0.45394|0.45394	0.557000|0.557000	0.71058|0.71058	AAC|ACG		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			59	140	0	0	0	0	59	140				
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(1381-1383)GCT>TCT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A377S	p.A461S			P36537	UDB10_HUMAN			9	1517	-			498			Helical; (Potential).			Missense_Mutation	SNP		37	c.1381G>T																																																																																				0	0.448									11	135	1	0	3.07e-06	3.55e-06	11	135				
PROL1	58503	broad.mit.edu	37	4	71275449	71275449	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:71275449T>G	ENST00000399575.2	+	3	578	c.404T>G	c.(403-405)cTt>cGt	p.L135R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	135	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCTATTTACCTTCCTATCTCT	0.433																																						uc003hfi.2		NA																	0				large_intestine(1)	1						c.(403-405)CTT>CGT		proline rich, lacrimal 1							188.0	195.0	193.0					4																	71275449		1876	4112	5988	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275449T>G	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.404T>G	4.37:g.71275449T>G	ENSP00000382485:p.Leu135Arg						p.L135R	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	578	+		all_hematologic(202;0.196)	135			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.404T>G	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	T	5.435	0.265318	0.10294	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.83	-3.67	0.04476	.	1.133610	0.07000	N	0.823250	T	0.17916	0.0430	N	0.22421	0.69	0.09310	N	1	B	0.29955	0.263	B	0.20184	0.028	T	0.11348	-1.0591	9	0.87932	D	0	.	0.6601	0.00841	0.1908:0.3605:0.1918:0.2569	.	135	Q99935	PROL1_HUMAN	R	135	.	ENSP00000382485:L135R	L	+	2	0	PROL1	71310038	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.400000	0.02504	-1.599000	0.01605	-0.723000	0.03601	CTT		0.433	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		40	68	0	0	0	0	40	68				
ADAMTS3	9508	broad.mit.edu	37	4	73175117	73175117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:73175117G>A	ENST00000286657.4	-	15	2212	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	726	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTTACCAAGCTTCCTGGGA	0.408																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(2176-2178)CTT>TTT		ADAM metallopeptidase with thrombospondin type 1							118.0	110.0	113.0					4																	73175117		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175117G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2176C>T	4.37:g.73175117G>A	ENSP00000286657:p.Leu726Phe					ADAMTS3_uc003hgl.2_Missense_Mutation_p.L67F	p.L726F	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2213	-			726			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2176C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179135	0.57800	.	.	ENSG00000156140	ENST00000286657	T	0.52057	0.68	5.53	4.69	0.59074	ADAM-TS Spacer 1 (1);	0.156736	0.43579	D	0.000554	T	0.35393	0.0930	L	0.28400	0.85	0.38862	D	0.956501	P	0.38335	0.627	B	0.41619	0.361	T	0.14504	-1.0470	10	0.10377	T	0.69	.	10.6876	0.45852	0.1462:0.0:0.8538:0.0	.	726	O15072	ATS3_HUMAN	F	726	ENSP00000286657:L726F	ENSP00000286657:L726F	L	-	1	0	ADAMTS3	73393981	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	0.847000	0.27696	1.469000	0.48083	0.557000	0.71058	CTT		0.408	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			18	38	0	0	0	0	18	38				
FGF5	2250	broad.mit.edu	37	4	81188293	81188293	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:81188293G>T	ENST00000312465.7	+	1	541	c.315G>T	c.(313-315)ccG>ccT	p.P105P	FGF5_ENST00000456523.3_Silent_p.P105P	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	105					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGATCTACCCGGATGGCAAAG	0.582																																						uc003hmd.2		NA																	0				ovary(1)|breast(1)	2						c.(313-315)CCG>CCT		fibroblast growth factor 5 isoform 1 precursor							45.0	49.0	47.0					4																	81188293		2202	4297	6499	SO:0001819	synonymous_variant	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188293G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.315G>T	4.37:g.81188293G>T						FGF5_uc003hme.2_Silent_p.P105P	p.P105P	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	552	+			105					B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	ENST00000312465.7	37	c.315G>T	CCDS34021.1																																																																																				0.582	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			29	58	1	0	3.74e-18	5.26e-18	29	58				
DNAJB14	79982	broad.mit.edu	37	4	100830007	100830007	+	Silent	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:100830007T>C	ENST00000442697.2	-	4	652	c.498A>G	c.(496-498)aaA>aaG	p.K166K		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	166	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GGTCATACTGTTTTCGCTTTT	0.348																																						uc003hvl.2		NA																	0					0						c.(496-498)AAA>AAG		DnaJ (Hsp40) homolog, subfamily B, member 14							99.0	94.0	95.0					4																	100830007		2202	4299	6501	SO:0001819	synonymous_variant	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100830007T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.498A>G	4.37:g.100830007T>C						DNAJB14_uc003hvk.2_Silent_p.K81K|DNAJB14_uc010ili.2_Silent_p.K99K	p.K166K	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	4	649	-			166			J.		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Silent	SNP	ENST00000442697.2	37	c.498A>G	CCDS34035.1																																																																																				0.348	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		21	40	0	0	0	0	21	40				
ANK2	287	broad.mit.edu	37	4	114290872	114290872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:114290872C>G	ENST00000357077.4	+	43	11574	c.11521C>G	c.(11521-11523)Ccg>Gcg	p.P3841A	ANK2_ENST00000506722.1_Missense_Mutation_p.P1747A|ANK2_ENST00000264366.6_Missense_Mutation_p.P3808A|ANK2_ENST00000394537.3_Missense_Mutation_p.P1756A|ANK2_ENST00000510275.2_Missense_Mutation_p.P408A|ANK2_ENST00000509550.1_Missense_Mutation_p.P932A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3841					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGAGCTCTCCGCGGAAAAC	0.537																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(11521-11523)CCG>GCG		ankyrin 2 isoform 1							78.0	72.0	74.0					4																	114290872		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114290872C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11521C>G	4.37:g.114290872C>G	ENSP00000349588:p.Pro3841Ala					ANK2_uc003ibd.3_Missense_Mutation_p.P1747A|ANK2_uc003ibf.3_Missense_Mutation_p.P1756A|ANK2_uc011cgc.1_Missense_Mutation_p.P932A|ANK2_uc003ibg.3_Missense_Mutation_p.P740A|ANK2_uc003ibh.3_Missense_Mutation_p.P430A|ANK2_uc011cgd.1_Missense_Mutation_p.P1143A	p.P3841A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	43	11621	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3808					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11521C>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.27|12.27	1.886615|1.886615	0.33348|0.33348	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960	T;T;T;T;T;D;D|T	0.96913|0.77750	-0.4;-0.38;-0.54;-0.55;-1.15;-1.99;-4.17|-1.12	5.55|5.55	3.81|3.81	0.43845|0.43845	.|.	0.534624|.	0.16804|.	N|.	0.198860|.	T|T	0.75391|0.75391	0.3843|0.3843	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;D;B|.	0.57257|.	0.278;0.004;0.004;0.015;0.979;0.083|.	B;B;B;B;P;B|.	0.54100|.	0.084;0.009;0.002;0.022;0.742;0.067|.	T|T	0.66069|0.66069	-0.6015|-0.6015	10|7	0.33940|0.59425	T|D	0.23|0.04	.|.	10.164|10.164	0.42868|0.42868	0.0:0.6753:0.2564:0.0683|0.0:0.6753:0.2564:0.0683	.|.	932;791;757;1756;3841;1747|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	A|C	1747;791;1756;3841;3808;1747;932;408;851|757	ENSP00000421067:P1747A;ENSP00000378044:P1756A;ENSP00000349588:P3841A;ENSP00000264366:P3808A;ENSP00000426944:P932A;ENSP00000421023:P408A;ENSP00000422498:P851A|ENSP00000422853:S757C	ENSP00000264366:P3808A|ENSP00000422853:S757C	P|S	+|+	1|2	0|0	ANK2|ANK2	114510321|114510321	0.006000|0.006000	0.16342|0.16342	0.010000|0.010000	0.14722|0.14722	0.003000|0.003000	0.03518|0.03518	0.452000|0.452000	0.21795|0.21795	0.803000|0.803000	0.34113|0.34113	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		24	40	0	0	0	0	24	40				
TRPC3	7222	broad.mit.edu	37	4	122800901	122800901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:122800901C>G	ENST00000379645.3	-	12	2829	c.2756G>C	c.(2755-2757)aGa>aCa	p.R919T	TRPC3_ENST00000264811.5_Missense_Mutation_p.R846T|TRPC3_ENST00000513531.1_Missense_Mutation_p.R791T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	834					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCATTCACATCTCAGCATGCT	0.363																																						uc003ieg.2		NA																	0				ovary(2)	2						c.(2755-2757)AGA>ACA		transient receptor potential cation channel,							123.0	117.0	119.0					4																	122800901		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122800901C>G	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2756G>C	4.37:g.122800901C>G	ENSP00000368966:p.Arg919Thr					TRPC3_uc010inr.2_Missense_Mutation_p.R791T|TRPC3_uc003ief.2_Missense_Mutation_p.R846T|TRPC3_uc011cgl.1_Missense_Mutation_p.R583T	p.R919T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			12	2830	-			834			Extracellular (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.2756G>C	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416910	0.62511	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.77489	-0.77;-1.1;-0.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	L	0.47716	1.5	0.48341	D	0.999635	D;B;D	0.54601	0.967;0.002;0.967	P;B;D	0.63597	0.879;0.007;0.916	D	0.85083	0.0947	10	0.72032	D	0.01	-10.1277	20.3736	0.98901	0.0:1.0:0.0:0.0	.	834;791;919	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	T	846;919;791	ENSP00000264811:R846T;ENSP00000368966:R919T;ENSP00000426899:R791T	ENSP00000264811:R846T	R	-	2	0	TRPC3	123020351	1.000000	0.71417	0.984000	0.44739	0.624000	0.37722	4.785000	0.62418	2.820000	0.97059	0.650000	0.86243	AGA		0.363	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		14	35	0	0	0	0	14	35				
FAT4	79633	broad.mit.edu	37	4	126408505	126408505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:126408505G>T	ENST00000394329.3	+	16	12835	c.12822G>T	c.(12820-12822)aaG>aaT	p.K4274N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2515N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4274	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACAGATTAAGAATGGCAAAG	0.318																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12820-12822)AAG>AAT		FAT tumor suppressor homolog 4 precursor							42.0	45.0	44.0					4																	126408505		2200	4299	6499	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408505G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12822G>T	4.37:g.126408505G>T	ENSP00000377862:p.Lys4274Asn					FAT4_uc011cgp.1_Missense_Mutation_p.K2515N|FAT4_uc003ifi.1_Missense_Mutation_p.K1752N	p.K4274N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			16	12822	+			4274			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.12822G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582039	0.28180	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78595	-1.12;-1.19	5.16	0.36	0.16097	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.206543	0.22837	U	0.055021	T	0.74891	0.3776	L	0.54323	1.7	0.30882	N	0.731342	P;P;P	0.47762	0.9;0.863;0.835	P;P;B	0.49999	0.628;0.542;0.407	T	0.71451	-0.4589	10	0.23891	T	0.37	.	9.7412	0.40420	0.6205:0.0:0.3795:0.0	.	2515;4274;4274	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4274;2515	ENSP00000377862:K4274N;ENSP00000335169:K2515N	ENSP00000335169:K2515N	K	+	3	2	FAT4	126627955	1.000000	0.71417	0.988000	0.46212	0.658000	0.38924	2.105000	0.41825	-0.289000	0.09038	-0.142000	0.14014	AAG		0.318	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	17	1	0	0.00198382	0.00210831	7	17				
PCDH10	57575	broad.mit.edu	37	4	134073619	134073619	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr4:134073619C>A	ENST00000264360.5	+	1	3150	c.2324C>A	c.(2323-2325)gCc>gAc	p.A775D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	775					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGCCGCCAAGCCCGGGCGCGC	0.592																																						uc003iha.2		NA																	0				ovary(2)	2						c.(2323-2325)GCC>GAC		protocadherin 10 isoform 1 precursor							34.0	35.0	35.0					4																	134073619		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073619C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2324C>A	4.37:g.134073619C>A	ENSP00000264360:p.Ala775Asp					PCDH10_uc003igz.2_Missense_Mutation_p.A775D	p.A775D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3150	+			775			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2324C>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	9.553	1.116399	0.20795	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52983	0.64	5.01	5.01	0.66863	.	0.000000	0.44902	D	0.000401	T	0.41305	0.1153	N	0.19112	0.55	0.58432	D	0.999998	D;B	0.57899	0.981;0.01	P;B	0.49637	0.617;0.005	T	0.15009	-1.0452	10	0.15499	T	0.54	.	17.0997	0.86645	0.0:1.0:0.0:0.0	.	775;775	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	775	ENSP00000264360:A775D	ENSP00000264360:A775D	A	+	2	0	PCDH10	134293069	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.322000	0.78497	0.561000	0.74099	GCC		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		13	26	1	0	0.00010058	0.000111637	13	26				
CTNND2	1501	broad.mit.edu	37	5	10992676	10992676	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:10992676G>T	ENST00000304623.8	-	19	3387	c.3198C>A	c.(3196-3198)ccC>ccA	p.P1066P	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.P633P|CTNND2_ENST00000503622.1_Silent_p.P729P|CTNND2_ENST00000511377.1_Silent_p.P975P|CTNND2_ENST00000359640.2_Silent_p.P1008P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1066					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCGGTTGTTGGGAGACACGC	0.592																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(3196-3198)CCC>CCA		catenin (cadherin-associated protein), delta 2							78.0	76.0	77.0					5																	10992676		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10992676G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3198C>A	5.37:g.10992676G>T						CTNND2_uc010itt.2_Silent_p.P975P|CTNND2_uc011cmy.1_Silent_p.P729P|CTNND2_uc011cmz.1_Silent_p.P633P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P658P	p.P1066P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			19	3343	-			1066					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.3198C>A	CCDS3881.1																																																																																				0.592	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		14	57	1	0	3.27e-08	4.01e-08	14	57				
CTNND2	1501	broad.mit.edu	37	5	11397162	11397162	+	Missense_Mutation	SNP	G	G	A	rs141302945		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:11397162G>A	ENST00000304623.8	-	6	782	c.593C>T	c.(592-594)aCg>aTg	p.T198M	CTNND2_ENST00000458100.2_De_novo_Start_OutOfFrame|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.T107M|CTNND2_ENST00000359640.2_Missense_Mutation_p.T198M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	198					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTCTGGCCCGTAGCTCGGGC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16818	0.0		0.0	False		,,,				2504	0.0					uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(592-594)ACG>ATG		catenin (cadherin-associated protein), delta 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	100.0	102.0	101.0		593	5.0	0.5	5	dbSNP_134	101	0,8600		0,0,4300	no	missense	CTNND2	NM_001332.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	198/1226	11397162	1,13005	2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11397162G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.593C>T	5.37:g.11397162G>A	ENSP00000307134:p.Thr198Met					CTNND2_uc010itt.2_Missense_Mutation_p.T107M|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Translation_Start_Site|CTNND2_uc010itu.1_Intron	p.T198M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			6	738	-			198					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.593C>T	CCDS3881.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.20	3.054907	0.55325	2.27E-4	0.0	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598	T;T;T	0.76060	-0.93;-0.99;-0.93	5.91	5.03	0.67393	.	1.055910	0.07407	N	0.891746	T	0.61148	0.2324	N	0.08118	0	0.80722	D	1	P	0.35793	0.521	B	0.31337	0.128	T	0.54840	-0.8233	10	0.62326	D	0.03	-2.032	17.2799	0.87125	0.0:0.1253:0.8747:0.0	.	198	Q9UQB3	CTND2_HUMAN	M	198;198;107;107	ENSP00000307134:T198M;ENSP00000352661:T198M;ENSP00000426510:T107M	ENSP00000307134:T198M	T	-	2	0	CTNND2	11450162	1.000000	0.71417	0.458000	0.27068	0.961000	0.63080	6.120000	0.71596	1.477000	0.48234	0.655000	0.94253	ACG		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		41	106	0	0	0	0	41	106				
NPR3	4883	broad.mit.edu	37	5	32783095	32783095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:32783095C>G	ENST00000265074.8	+	6	1730	c.1387C>G	c.(1387-1389)Cga>Gga	p.R463G	NPR3_ENST00000434067.2_Missense_Mutation_p.R247G|AC026703.2_ENST00000607869.1_RNA|NPR3_ENST00000415685.2_Missense_Mutation_p.R247G|NPR3_ENST00000415167.2_Missense_Mutation_p.R463G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	463					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGATGAAAACCGAATTGTAGA	0.383																																						uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1387-1389)CGA>GGA		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						72.0	66.0	68.0					5																	32783095		1836	4091	5927	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32783095C>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1387C>G	5.37:g.32783095C>G	ENSP00000265074:p.Arg463Gly					NPR3_uc010iuo.2_Missense_Mutation_p.R247G|NPR3_uc011cnz.1_Missense_Mutation_p.R247G|NPR3_uc003jhu.2_Missense_Mutation_p.R463G	p.R463G	NM_000908	NP_000899	P17342	ANPRC_HUMAN			6	1605	+			463			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1387C>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712560	0.30322	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;T;T;T;T	0.81996	-1.56;0.8;0.8;0.8;0.8	6.17	3.83	0.44106	.	0.094194	0.64402	D	0.000001	T	0.73063	0.3539	M	0.63428	1.95	0.36995	D	0.894985	P;B;B;B	0.45176	0.852;0.085;0.038;0.038	B;B;B;B	0.32211	0.142;0.011;0.011;0.011	T	0.70813	-0.4770	10	0.22706	T	0.39	-20.1732	7.9178	0.29829	0.6018:0.3266:0.0716:0.0	.	247;247;463;463	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	G	240;247;247;463;463	ENSP00000425325:R240G;ENSP00000388408:R247G;ENSP00000402490:R247G;ENSP00000265074:R463G;ENSP00000398028:R463G	ENSP00000265074:R463G	R	+	1	2	NPR3	32818852	1.000000	0.71417	0.876000	0.34364	0.260000	0.26232	1.840000	0.39230	0.564000	0.29238	-0.274000	0.10170	CGA		0.383	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	19	0	0	0	0	6	19				
RAI14	26064	broad.mit.edu	37	5	34823148	34823148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:34823148C>T	ENST00000265109.3	+	15	1488	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	RAI14_ENST00000506376.1_Missense_Mutation_p.P393S|RAI14_ENST00000503673.1_Missense_Mutation_p.P401S|RAI14_ENST00000512629.1_Missense_Mutation_p.P372S|RAI14_ENST00000397449.1_Missense_Mutation_p.P394S|RAI14_ENST00000428746.2_Missense_Mutation_p.P401S|RAI14_ENST00000515799.1_Missense_Mutation_p.P404S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	401						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTGGGAAAACCTGGTGAAAC	0.453																																						uc003jir.2		NA																	0				ovary(1)	1						c.(1201-1203)CCT>TCT		retinoic acid induced 14 isoform a							87.0	88.0	88.0					5																	34823148		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823148C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1201C>T	5.37:g.34823148C>T	ENSP00000265109:p.Pro401Ser					RAI14_uc010iur.2_Missense_Mutation_p.P372S|RAI14_uc011coj.1_Missense_Mutation_p.P401S|RAI14_uc003jis.2_Missense_Mutation_p.P404S|RAI14_uc003jit.2_Missense_Mutation_p.P401S|RAI14_uc011cok.1_Missense_Mutation_p.P393S	p.P401S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	1397	+	all_lung(31;0.000191)		401					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1201C>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	0.368	-0.935716	0.02340	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.34072	1.39;1.38;1.39;1.39;1.39;1.44;1.43	5.64	-0.71	0.11234	.	.	.	.	.	T	0.16257	0.0391	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.09377	0.001;0.002;0.004;0.002	T	0.32851	-0.9891	9	0.02654	T	1	0.0082	3.8908	0.09117	0.2141:0.242:0.4184:0.1255	.	393;372;404;401	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	401;372;401;401;404;393;394	ENSP00000265109:P401S;ENSP00000422377:P372S;ENSP00000388725:P401S;ENSP00000422942:P401S;ENSP00000427123:P404S;ENSP00000423854:P393S;ENSP00000380591:P394S	ENSP00000265109:P401S	P	+	1	0	RAI14	34858905	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-0.419000	0.07071	-0.479000	0.06813	0.555000	0.69702	CCT		0.453	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		25	53	0	0	0	0	25	53				
GRIA1	2890	broad.mit.edu	37	5	153056596	153056596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056596G>T	ENST00000285900.5	+	7	1247	c.904G>T	c.(904-906)Gag>Tag	p.E302*	GRIA1_ENST00000340592.5_Nonsense_Mutation_p.E302*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.E312*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.E222*|GRIA1_ENST00000521843.2_Nonsense_Mutation_p.E233*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.E312*	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	302					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGTGATGGCTGAGGCTTTCCA	0.552																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(904-906)GAG>TAG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						89.0	83.0	85.0					5																	153056596		2203	4300	6503	SO:0001587	stop_gained	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056596G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.904G>T	5.37:g.153056596G>T	ENSP00000285900:p.Glu302*					GRIA1_uc003luy.3_Nonsense_Mutation_p.E302*|GRIA1_uc003luz.3_Nonsense_Mutation_p.E207*|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Nonsense_Mutation_p.E222*|GRIA1_uc011dcx.1_Nonsense_Mutation_p.E233*|GRIA1_uc011dcy.1_Nonsense_Mutation_p.E312*|GRIA1_uc011dcz.1_Nonsense_Mutation_p.E312*|GRIA1_uc010jia.1_Nonsense_Mutation_p.E282*	p.E302*	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1269	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	302			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Nonsense_Mutation	SNP	ENST00000285900.5	37	c.904G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579119	0.98371	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.56	5.56	0.83823	.	0.222037	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	.	.	.	X	302;302;222;256;302;233;233;312;312	.	ENSP00000285900:E302X	E	+	1	0	GRIA1	153036789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.256000	0.58810	2.595000	0.87683	0.655000	0.94253	GAG		0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			17	23	1	0	1.68e-08	2.07e-08	17	23				
GRIA1	2890	broad.mit.edu	37	5	153056599	153056599	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:153056599G>C	ENST00000285900.5	+	7	1250	c.907G>C	c.(907-909)Gct>Cct	p.A303P	GRIA1_ENST00000340592.5_Missense_Mutation_p.A303P|GRIA1_ENST00000518783.1_Missense_Mutation_p.A313P|GRIA1_ENST00000518142.1_Missense_Mutation_p.A223P|GRIA1_ENST00000521843.2_Missense_Mutation_p.A234P|GRIA1_ENST00000448073.4_Missense_Mutation_p.A313P	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	303					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GATGGCTGAGGCTTTCCAGAG	0.562																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(907-909)GCT>CCT		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						88.0	82.0	84.0					5																	153056599		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056599G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.907G>C	5.37:g.153056599G>C	ENSP00000285900:p.Ala303Pro					GRIA1_uc003luy.3_Missense_Mutation_p.A303P|GRIA1_uc003luz.3_Missense_Mutation_p.A208P|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.A223P|GRIA1_uc011dcx.1_Missense_Mutation_p.A234P|GRIA1_uc011dcy.1_Missense_Mutation_p.A313P|GRIA1_uc011dcz.1_Missense_Mutation_p.A313P|GRIA1_uc010jia.1_Missense_Mutation_p.A283P	p.A303P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1272	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	303			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.907G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341357	0.95783	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.78456	2.415	0.80722	D	1	D;D;P;D;D;P	0.89917	1.0;1.0;0.861;1.0;1.0;0.686	D;D;D;D;D;P	0.97110	1.0;1.0;0.963;1.0;1.0;0.89	T	0.74512	-0.3641	10	0.87932	D	0	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	313;313;223;313;303;303	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	P	303;303;223;257;303;234;234;313;313	ENSP00000285900:A303P;ENSP00000427920:A223P;ENSP00000339343:A303P;ENSP00000427864:A234P;ENSP00000442108:A234P;ENSP00000428994:A313P;ENSP00000415569:A313P	ENSP00000285900:A303P	A	+	1	0	GRIA1	153036792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.506000	0.97992	2.595000	0.87683	0.655000	0.94253	GCT		0.562	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			15	21	0	0	0	0	15	21				
RARS	5917	broad.mit.edu	37	5	167921571	167921571	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:167921571C>T	ENST00000231572.3	+	5	549	c.495C>T	c.(493-495)caC>caT	p.H165H	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	165					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TTAATGTCCACTTAAGAAAGG	0.358																																						uc003lzx.2		NA																	0				ovary(2)|skin(1)	3						c.(493-495)CAC>CAT		arginyl-tRNA synthetase							107.0	117.0	113.0					5																	167921571		2203	4300	6503	SO:0001819	synonymous_variant	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167921571C>T	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.495C>T	5.37:g.167921571C>T						RARS_uc011deo.1_5'UTR	p.H165H	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	5	536	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	165					B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	ENST00000231572.3	37	c.495C>T	CCDS4367.1																																																																																				0.358	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		8	28	0	0	0	0	8	28				
NSD1	64324	broad.mit.edu	37	5	176687055	176687055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:176687055G>T	ENST00000439151.2	+	14	5077	c.5032G>T	c.(5032-5034)Ggg>Tgg	p.G1678W	NSD1_ENST00000347982.4_Missense_Mutation_p.G1409W|NSD1_ENST00000361032.4_Missense_Mutation_p.G1575W|NSD1_ENST00000354179.4_Missense_Mutation_p.G1409W	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1678					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGCTGCTGGGTCAAAGAT	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(5032-5034)GGG>TGG		nuclear receptor binding SET domain protein 1							125.0	115.0	118.0					5																	176687055		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687055G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5032G>T	5.37:g.176687055G>T	ENSP00000395929:p.Gly1678Trp	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.G1409W|NSD1_uc003mfs.1_Missense_Mutation_p.G1575W|NSD1_uc011dfx.1_Missense_Mutation_p.G1326W	p.G1678W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5170	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1678					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5032G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462304	0.84425	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.51	4.64	0.57946	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.98178	0.9398	M	0.87547	2.89	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99153	1.0859	10	0.87932	D	0	.	14.8386	0.70206	0.0697:0.0:0.9303:0.0	.	1409;1575;1678	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	W	1409;1678;1409;1575	ENSP00000346111:G1409W;ENSP00000395929:G1678W;ENSP00000343209:G1409W;ENSP00000354310:G1575W	ENSP00000343209:G1409W	G	+	1	0	NSD1	176619661	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.813000	0.99286	1.464000	0.47987	0.467000	0.42956	GGG		0.488	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	30	1	0	1.5e-05	1.7e-05	13	30				
GCNT2	2651	broad.mit.edu	37	6	10529410	10529410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:10529410C>T	ENST00000379597.3	+	1	822	c.266C>T	c.(265-267)tCt>tTt	p.S89F	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428																																						uc010joo.2		NA																	0				ovary(2)	2						c.(265-267)TCT>TTT		glucosaminyl (N-acetyl) transferase 2,							125.0	129.0	128.0					6																	10529410		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529410C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.266C>T	6.37:g.10529410C>T	ENSP00000368917:p.Ser89Phe					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.S88F|GCNT2_uc010jon.2_Missense_Mutation_p.S88F	p.S89F	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	817	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	89			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.266C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695395	0.68386	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.14144	2.53;2.53	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.03240	-1.1057	10	0.87932	D	0	-0.0668	18.9125	0.92491	0.0:1.0:0.0:0.0	.	89;88	Q8N0V5;Q08M29	GNT2A_HUMAN;.	F	89	ENSP00000419411:S89F;ENSP00000368917:S89F	ENSP00000368917:S89F	S	+	2	0	GCNT2	10637396	0.971000	0.33674	0.623000	0.29173	0.605000	0.37080	5.627000	0.67784	2.563000	0.86464	0.555000	0.69702	TCT		0.428	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		31	43	0	0	0	0	31	43				
PEX6	5190	broad.mit.edu	37	6	42936617	42936617	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:42936617G>A	ENST00000304611.8	-	6	1543	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	PEX6_ENST00000244546.4_Silent_p.L492L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	492					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCAGTAAGTGGAGC	0.587																																						uc003otf.2		NA																	0				ovary(1)	1						c.(1474-1476)CTG>TTG		peroxisomal biogenesis factor 6							106.0	99.0	101.0					6																	42936617		2203	4300	6503	SO:0001819	synonymous_variant	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42936617G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1474C>T	6.37:g.42936617G>A						PEX6_uc010jya.2_RNA	p.L492L	NM_000287	NP_000278	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		6	1567	-			492					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	c.1474C>T	CCDS4877.1																																																																																				0.587	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		29	15	0	0	0	0	29	15				
COL12A1	1303	broad.mit.edu	37	6	75825753	75825753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:75825753C>T	ENST00000322507.8	-	48	7849	c.7540G>A	c.(7540-7542)Gat>Aat	p.D2514N	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2514N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1350N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2514	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGTAGCCATCCAAATAAATG	0.328																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7540-7542)GAT>AAT		collagen, type XII, alpha 1 long isoform							92.0	87.0	88.0					6																	75825753		1862	4086	5948	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75825753C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7540G>A	6.37:g.75825753C>T	ENSP00000325146:p.Asp2514Asn					COL12A1_uc003pht.2_Missense_Mutation_p.D1350N	p.D2514N	NM_004370	NP_004361	Q99715	COCA1_HUMAN			48	7706	-			2514			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7540G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918283	0.33908	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;T	0.89415	-2.1;-2.51;-2.17;-2.09;-2.08;0.66	4.54	4.54	0.55810	.	0.176201	0.48767	D	0.000172	T	0.65260	0.2674	N	0.03177	-0.4	0.35567	D	0.805194	B;B	0.16166	0.006;0.016	B;B	0.14578	0.011;0.003	T	0.59857	-0.7375	10	0.22109	T	0.4	.	17.6767	0.88232	0.0:1.0:0.0:0.0	.	1350;2514	Q99715-2;Q99715	.;COCA1_HUMAN	N	2514;152;2514;1350;2514;2514;68	ENSP00000325146:D2514N;ENSP00000399812:D152N;ENSP00000305147:D1350N;ENSP00000412864:D2514N;ENSP00000421216:D2514N;ENSP00000423423:D68N	ENSP00000325146:D2514N	D	-	1	0	COL12A1	75882473	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.189000	0.50965	2.214000	0.71695	0.655000	0.94253	GAT		0.328	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	30	0	0	0	0	4	30				
ARMC2	84071	broad.mit.edu	37	6	109215694	109215694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:109215694G>T	ENST00000392644.4	+	6	864	c.696G>T	c.(694-696)agG>agT	p.R232S	ARMC2_ENST00000368972.3_Missense_Mutation_p.R67S	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	232										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GACATGCGAGGGCCTCATCAT	0.488																																						uc003pss.3		NA																	0					0						c.(694-696)AGG>AGT		armadillo repeat containing 2							112.0	105.0	107.0					6																	109215694		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109215694G>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.696G>T	6.37:g.109215694G>T	ENSP00000376417:p.Arg232Ser					ARMC2_uc011eao.1_Missense_Mutation_p.R67S	p.R232S	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	6	870	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	232					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.696G>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	3.522	-0.097492	0.07010	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.47869	0.83;0.83	5.25	2.45	0.29901	.	0.551922	0.19029	N	0.124611	T	0.18045	0.0433	M	0.68317	2.08	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.24297	-1.0164	10	0.17832	T	0.49	.	4.6561	0.12618	0.1796:0.0:0.6465:0.1739	.	232	Q8NEN0	ARMC2_HUMAN	S	67;232	ENSP00000357968:R67S;ENSP00000376417:R232S	ENSP00000357968:R67S	R	+	3	2	ARMC2	109322387	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.058000	0.14301	0.430000	0.26230	0.655000	0.94253	AGG		0.488	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		22	56	1	0	7.42e-09	9.23e-09	22	56				
RFPL4B	442247	broad.mit.edu	37	6	112671295	112671295	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671295G>T	ENST00000441065.2	+	3	697	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCTGACAAAAGATCCCAGGCT	0.557																																						uc003pvx.1		NA																	0					0						c.(385-387)GAT>TAT		ret finger protein-like 4B							74.0	77.0	76.0					6																	112671295		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671295G>T	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.385G>T	6.37:g.112671295G>T	ENSP00000423391:p.Asp129Tyr						p.D129Y	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	697	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	129			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.385G>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	g	7.157	0.584936	0.13749	.	.	ENSG00000251258	ENST00000441065	T	0.61392	0.11	4.14	-0.716	0.11212	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.792233	0.10305	N	0.690660	T	0.26702	0.0653	L	0.55017	1.72	0.09310	N	1	B	0.18013	0.025	B	0.21546	0.035	T	0.37731	-0.9693	10	0.66056	D	0.02	.	2.9435	0.05839	0.3669:0.0:0.3115:0.3215	.	129	Q6ZWI9	RFPLB_HUMAN	Y	129	ENSP00000423391:D129Y	ENSP00000423391:D129Y	D	+	1	0	RFPL4B	112777988	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.551000	0.23361	-0.156000	0.11079	-0.121000	0.15023	GAT		0.557	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		22	38	1	0	3.6e-14	4.87e-14	22	38				
RFPL4B	442247	broad.mit.edu	37	6	112671407	112671407	+	Missense_Mutation	SNP	C	C	A	rs370521571		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:112671407C>A	ENST00000441065.2	+	3	809	c.497C>A	c.(496-498)cCg>cAg	p.P166Q	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	166	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGCAAGGAGCCGGCTGACAGA	0.547																																						uc003pvx.1		NA																	0					0						c.(496-498)CCG>CAG		ret finger protein-like 4B							73.0	77.0	76.0					6																	112671407		2203	4300	6503	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671407C>A	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.497C>A	6.37:g.112671407C>A	ENSP00000423391:p.Pro166Gln						p.P166Q	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	809	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	166			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.497C>A	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664214	0.29604	.	.	ENSG00000251258	ENST00000441065	T	0.60797	0.16	4.36	2.6	0.31112	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.30584	N	0.009311	T	0.20577	0.0495	N	0.12746	0.255	0.09310	N	1	B	0.25609	0.13	B	0.30495	0.116	T	0.18745	-1.0327	10	0.87932	D	0	.	9.0927	0.36621	0.0:0.8172:0.0:0.1828	.	166	Q6ZWI9	RFPLB_HUMAN	Q	166	ENSP00000423391:P166Q	ENSP00000423391:P166Q	P	+	2	0	RFPL4B	112778100	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	1.264000	0.33015	0.801000	0.34066	-0.137000	0.14449	CCG		0.547	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		30	67	1	0	7.01e-11	9.13e-11	30	67				
LAMA2	3908	broad.mit.edu	37	6	129723502	129723502	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:129723502A>G	ENST00000421865.2	+	39	5645	c.5596A>G	c.(5596-5598)Atg>Gtg	p.M1866V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1866	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCCACCTATGTCTGAGGA	0.423																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(5596-5598)ATG>GTG		laminin alpha 2 subunit isoform a precursor							99.0	91.0	93.0					6																	129723502		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129723502A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5596A>G	6.37:g.129723502A>G	ENSP00000400365:p.Met1866Val					LAMA2_uc003qbo.2_Missense_Mutation_p.M1866V	p.M1866V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	39	5701	+			1866			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5596A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	9.496	1.102075	0.20632	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.20463	2.07	5.9	3.48	0.39840	.	0.295374	0.36932	N	0.002330	T	0.04634	0.0126	L	0.50919	1.6	0.30293	N	0.790151	B;B	0.21688	0.059;0.059	B;B	0.21360	0.034;0.021	T	0.37663	-0.9696	10	0.08179	T	0.78	.	3.7651	0.08619	0.564:0.2496:0.0663:0.1201	.	1866;1866	A6NF00;P24043	.;LAMA2_HUMAN	V	1866	ENSP00000400365:M1866V	ENSP00000346769:M1866V	M	+	1	0	LAMA2	129765195	0.734000	0.28142	0.987000	0.45799	0.981000	0.71138	1.434000	0.34958	1.044000	0.40200	0.482000	0.46254	ATG		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	21	0	0	0	0	13	21				
L3MBTL3	84456	broad.mit.edu	37	6	130378576	130378576	+	Silent	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:130378576G>T	ENST00000529410.1	+	11	1172	c.693G>T	c.(691-693)gcG>gcT	p.A231A	L3MBTL3_ENST00000368139.2_Silent_p.A206A|L3MBTL3_ENST00000526019.1_Silent_p.A206A|L3MBTL3_ENST00000361794.2_Silent_p.A231A|L3MBTL3_ENST00000368136.2_Silent_p.A231A|L3MBTL3_ENST00000533560.1_Silent_p.A206A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	231					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAAGAAAGCGTGGTGCTGGG	0.522																																						uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(691-693)GCG>GCT		l(3)mbt-like 3 isoform a							72.0	67.0	69.0					6																	130378576		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130378576G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.693G>T	6.37:g.130378576G>T						L3MBTL3_uc003qbu.2_Silent_p.A206A	p.A231A	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	9	863	+			231					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.693G>T	CCDS34537.1																																																																																				0.522	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	17	1	0	1.26e-09	1.61e-09	7	17				
MAP3K5	4217	broad.mit.edu	37	6	136990474	136990474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr6:136990474A>G	ENST00000359015.4	-	8	1673	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCCAGGAGGAGGACCGCATA	0.388																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1312-1314)CTC>CCC		mitogen-activated protein kinase kinase kinase							144.0	151.0	149.0					6																	136990474		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990474A>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1313T>C	6.37:g.136990474A>G	ENSP00000351908:p.Leu438Pro					MAP3K5_uc011edk.1_Missense_Mutation_p.L283P|MAP3K5_uc010kgw.1_Missense_Mutation_p.L438P	p.L438P	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1674	-	Colorectal(23;0.24)		438					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.1313T>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339482	0.81911	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.33654	1.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.65352	-0.6189	10	0.87932	D	0	.	15.846	0.78890	1.0:0.0:0.0:0.0	.	518;283;438	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	P	438;518	ENSP00000351908:L438P	ENSP00000351908:L438P	L	-	2	0	MAP3K5	137032167	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	8.962000	0.93254	2.154000	0.67381	0.528000	0.53228	CTC		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			3	96	0	0	0	0	3	96				
GPER1	2852	broad.mit.edu	37	7	1131629	1131629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:1131629G>A	ENST00000297469.3	+	2	956	c.265G>A	c.(265-267)Gag>Aag	p.E89K	GPER1_ENST00000401670.1_Missense_Mutation_p.E89K|GPER1_ENST00000397088.3_Missense_Mutation_p.E89K|GPER1_ENST00000397092.1_Missense_Mutation_p.E89K|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	89					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CAGCTTCCGCGAGAAGATGAC	0.582																																						uc010ksd.1		NA																	0				ovary(1)	1						c.(265-267)GAG>AAG		G protein-coupled receptor 30							140.0	118.0	125.0					7																	1131629		2203	4300	6503	SO:0001583	missense	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131629G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.265G>A	7.37:g.1131629G>A	ENSP00000297469:p.Glu89Lys					C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.E89K|GPER_uc003ska.1_Missense_Mutation_p.E89K|GPER_uc003skb.2_Missense_Mutation_p.E89K	p.E89K	NM_001098201	NP_001091671	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	2	654	+		Ovarian(82;0.0253)	89			Cytoplasmic (Potential).		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.265G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	8.205	0.799035	0.16397	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.48	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.056908	0.64402	D	0.000002	T	0.42177	0.1191	N	0.01009	-1.055	0.50813	D	0.999898	P	0.46142	0.873	B	0.43990	0.438	T	0.53585	-0.8418	10	0.06365	T	0.9	-17.4956	15.2433	0.73488	0.0:0.1409:0.8591:0.0	.	89	Q99527	GPER_HUMAN	K	89	ENSP00000385151:E89K;ENSP00000380281:E89K;ENSP00000297469:E89K;ENSP00000380277:E89K	ENSP00000297469:E89K	E	+	1	0	GPER	1098155	1.000000	0.71417	0.036000	0.18154	0.895000	0.52256	7.390000	0.79816	1.273000	0.44346	0.643000	0.83706	GAG		0.582	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		15	51	0	0	0	0	15	51				
NPVF	64111	broad.mit.edu	37	7	25266438	25266438	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:25266438T>C	ENST00000222674.2	-	2	392	c.346A>G	c.(346-348)Atg>Gtg	p.M116V		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	116					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCACCTCCATATTTCTTCCA	0.493																																						uc003sxo.2		NA																	0				ovary(1)	1						c.(346-348)ATG>GTG		neuropeptide VF precursor							194.0	186.0	189.0					7																	25266438		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266438T>C	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.346A>G	7.37:g.25266438T>C	ENSP00000222674:p.Met116Val						p.M116V	NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN			2	393	-			116					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.346A>G	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	T	0.540	-0.854172	0.02630	.	.	ENSG00000105954	ENST00000222674	T	0.21543	2.0	5.67	2.96	0.34315	.	0.751274	0.12973	N	0.424000	T	0.13884	0.0336	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.20140	-1.0284	10	0.32370	T	0.25	-1.1065	4.7168	0.12899	0.268:0.0918:0.0:0.6402	.	116	Q9HCQ7	RFRP_HUMAN	V	116	ENSP00000222674:M116V	ENSP00000222674:M116V	M	-	1	0	NPVF	25232963	0.130000	0.22417	0.018000	0.16275	0.071000	0.16799	1.192000	0.32150	1.078000	0.41014	-0.290000	0.09829	ATG		0.493	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		48	119	0	0	0	0	48	119				
PDE1C	5137	broad.mit.edu	37	7	32209516	32209516	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:32209516C>A	ENST00000396193.1	-	3	782	c.189G>T	c.(187-189)ggG>ggT	p.G63G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCTTGACATTCCCTGTGAGCC	0.517																																						uc003tco.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(187-189)GGG>GGT		phosphodiesterase 1C							258.0	219.0	231.0					7																	32209516		876	1991	2867	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209516C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.189G>T	7.37:g.32209516C>A							p.G63G	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	783	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396193.1	37	c.189G>T	CCDS55100.1																																																																																				0.517	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			25	105	1	0	3.67e-16	5.1e-16	25	105				
AMPH	273	broad.mit.edu	37	7	38433765	38433765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:38433765G>A	ENST00000356264.2	-	18	1663	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.A441V|AMPH_ENST00000325590.5_Missense_Mutation_p.A441V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	483					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCCCTCAGCTGCTGACACCAA	0.587																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(1447-1449)GCA>GTA		amphiphysin isoform 1							74.0	75.0	75.0					7																	38433765		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38433765G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1448C>T	7.37:g.38433765G>A	ENSP00000348602:p.Ala483Val					AMPH_uc003tgv.2_Missense_Mutation_p.A441V|AMPH_uc003tgt.2_Missense_Mutation_p.A368V|AMPH_uc003tgw.1_Missense_Mutation_p.A506V|AMPH_uc010kxl.1_RNA	p.A483V	NM_001635	NP_001626	P49418	AMPH_HUMAN			18	1517	-			483					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1448C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380747	0.24944	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.60424	0.2;0.23;0.19	4.66	3.77	0.43336	.	0.327762	0.31697	N	0.007212	T	0.57504	0.2058	L	0.29908	0.895	0.09310	N	1	D;B;B;D	0.67145	0.996;0.004;0.007;0.985	P;B;B;P	0.62184	0.899;0.016;0.004;0.728	T	0.48019	-0.9071	10	0.23302	T	0.38	-3.2719	10.1488	0.42780	0.0:0.0:0.8002:0.1998	.	529;441;483;371	Q8NFL6;P49418-2;P49418;Q8NFL4	.;.;AMPH_HUMAN;.	V	441;483;441;385	ENSP00000317441:A441V;ENSP00000348602:A483V;ENSP00000390734:A441V	ENSP00000317441:A441V	A	-	2	0	AMPH	38400290	.	.	0.001000	0.08648	0.316000	0.28119	.	.	0.934000	0.37316	0.313000	0.20887	GCA		0.587	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		55	66	0	0	0	0	55	66				
IGFBP1	3484	broad.mit.edu	37	7	45928583	45928583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:45928583C>A	ENST00000275525.3	+	1	628	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	IGFBP1_ENST00000457280.1_Missense_Mutation_p.S111Y|IGFBP1_ENST00000468955.1_Missense_Mutation_p.S111Y	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	111					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TCTGACGCCTCCGCTCCCCAT	0.741																																						uc003tnp.2		NA																	0				lung(1)	1						c.(331-333)TCC>TAC		insulin-like growth factor binding protein 1							2.0	2.0	2.0					7																	45928583		1535	3358	4893	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45928583C>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.332C>A	7.37:g.45928583C>A	ENSP00000275525:p.Ser111Tyr					IGFBP1_uc003tno.3_Missense_Mutation_p.S111Y|IGFBP1_uc010kyn.2_Missense_Mutation_p.S111Y	p.S111Y	NM_000596	NP_000587	P08833	IBP1_HUMAN			1	625	+			111					A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.332C>A	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388196	0.42308	.	.	ENSG00000146678	ENST00000275525;ENST00000457280;ENST00000468955	T;T;T	0.30182	1.55;1.54;2.64	4.36	0.195	0.15151	.	2.356960	0.01439	N	0.015028	T	0.26882	0.0658	L	0.29908	0.895	0.09310	N	1	P;P;P	0.51653	0.947;0.9;0.9	B;B;B	0.43536	0.254;0.423;0.423	T	0.25293	-1.0136	10	0.66056	D	0.02	-0.9801	6.826	0.23883	0.3268:0.3553:0.3179:0.0	.	111;111;111	C9J6H2;P08833;C9JXF9	.;IBP1_HUMAN;.	Y	111	ENSP00000275525:S111Y;ENSP00000413511:S111Y;ENSP00000417069:S111Y	ENSP00000275525:S111Y	S	+	2	0	IGFBP1	45895108	0.040000	0.19996	0.000000	0.03702	0.014000	0.08584	0.452000	0.21795	-0.159000	0.11021	0.514000	0.50259	TCC		0.741	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		4	4	1	0	0.00909568	0.0094935	4	4				
GTF2IRD1	9569	broad.mit.edu	37	7	74015431	74015431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:74015431C>G	ENST00000265755.3	+	26	3128	c.2735C>G	c.(2734-2736)tCc>tGc	p.S912C	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.S897C|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.S897C|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.S929C	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	912	Ser-rich.				multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATTCCGTctcctcttcctcc	0.542																																						uc003uaq.2		NA																	0				ovary(4)	4						c.(2734-2736)TCC>TGC		GTF2I repeat domain containing 1 isoform 1							170.0	127.0	142.0					7																	74015431		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74015431C>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2735C>G	7.37:g.74015431C>G	ENSP00000265755:p.Ser912Cys					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.S929C|GTF2IRD1_uc003uap.2_Missense_Mutation_p.S897C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S897C	p.S912C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			26	3128	+			912	Missing: Cytoplasmic localization.		Ser-rich.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2735C>G	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587766	0.86851	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.39406	1.2;1.19;1.21;1.08	5.11	5.11	0.69529	.	0.443802	0.24436	N	0.038547	T	0.62233	0.2411	L	0.56769	1.78	0.39517	D	0.968441	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.81914	0.99;0.981;0.994;0.995	T	0.66320	-0.5953	10	0.87932	D	0	.	17.4616	0.87621	0.0:1.0:0.0:0.0	.	929;897;912;897	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	C	912;929;897;897	ENSP00000265755:S912C;ENSP00000397566:S929C;ENSP00000408477:S897C;ENSP00000418383:S897C	ENSP00000265755:S912C	S	+	2	0	GTF2IRD1	73653367	1.000000	0.71417	0.991000	0.47740	0.876000	0.50452	4.523000	0.60545	2.534000	0.85438	0.561000	0.74099	TCC		0.542	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		23	27	0	0	0	0	23	27				
PON1	5444	broad.mit.edu	37	7	94946068	94946068	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:94946068T>G	ENST00000222381.3	-	3	410	c.179A>C	c.(178-180)aAt>aCt	p.N60T	PON1_ENST00000542556.1_Missense_Mutation_p.N60T	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	60					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	AGCCAGTCCATTAGGCAGTAT	0.398																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2		NA																	0				pancreas(1)	1						c.(178-180)AAT>ACT		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						176.0	168.0	171.0					7																	94946068		2203	4300	6503	SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94946068T>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.179A>C	7.37:g.94946068T>G	ENSP00000222381:p.Asn60Thr					PON1_uc011kih.1_Missense_Mutation_p.N60T	p.N60T	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	276	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		60					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.179A>C	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.707934	0.48412	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.46063	0.88;0.88	5.05	2.72	0.32119	Six-bladed beta-propeller, TolB-like (1);	0.194632	0.53938	D	0.000060	T	0.43700	0.1259	M	0.79475	2.455	0.43457	D	0.995657	B;B	0.27700	0.186;0.117	B;B	0.29353	0.101;0.047	T	0.50074	-0.8870	10	0.72032	D	0.01	-25.7671	10.0537	0.42233	0.0:0.1449:0.0:0.8551	.	60;60	F5H4W9;P27169	.;PON1_HUMAN	T	60	ENSP00000222381:N60T;ENSP00000444854:N60T	ENSP00000222381:N60T	N	-	2	0	PON1	94784004	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	1.577000	0.36515	1.058000	0.40530	0.528000	0.53228	AAT		0.398	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		46	323	0	0	0	0	46	323				
TECPR1	25851	broad.mit.edu	37	7	97872809	97872809	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:97872809C>A	ENST00000447648.2	-	6	926	c.627G>T	c.(625-627)ctG>ctT	p.L209L	TECPR1_ENST00000542604.1_Silent_p.L130L|TECPR1_ENST00000379795.3_Silent_p.L209L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	209					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACACTGACAGGCGGCCCA	0.647																																						uc003upg.2		NA																	0				pancreas(1)	1						c.(625-627)CTG>CTT		tectonin beta-propeller repeat containing 1							49.0	59.0	56.0					7																	97872809		2094	4218	6312	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97872809C>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.627G>T	7.37:g.97872809C>A						TECPR1_uc003uph.1_Silent_p.L130L	p.L209L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			6	832	-			209			TECPR 1.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.627G>T	CCDS47648.1																																																																																				0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		84	47	1	0	1.51e-25	2.19e-25	84	47				
MUC17	140453	broad.mit.edu	37	7	100685833	100685833	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:100685833C>T	ENST00000306151.4	+	3	11200	c.11136C>T	c.(11134-11136)agC>agT	p.S3712S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3712	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)					CTGAGGGTAGCACCCTTTCAA	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(11134-11136)AGC>AGT		mucin 17 precursor							227.0	207.0	214.0					7																	100685833		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685833C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11136C>T	7.37:g.100685833C>T						MUC17_uc010lho.1_RNA	p.S3712S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	11189	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3712			Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11136C>T	CCDS34711.1																																																																																				0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		441	189	0	0	0	0	441	189				
RELN	5649	broad.mit.edu	37	7	103216153	103216153	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:103216153C>A	ENST00000428762.1	-	29	4305		c.e29-1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGGTCTTGCTGTTGGGAAA	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.e29-1		reelin isoform a							121.0	97.0	105.0					7																	103216153		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103216153C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4146-1G>T	7.37:g.103216153C>A						RELN_uc010liz.2_Splice_Site_p.S1382_splice	p.S1382_splice	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4306	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	c.4146_splice	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892996	0.91889	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9756	0.97304	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103003389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.793000	0.96121	0.563000	0.77884	.		0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	16	165	1	0	5.01e-05	5.63e-05	16	165				
LAMB1	3912	broad.mit.edu	37	7	107580499	107580499	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:107580499G>C	ENST00000222399.6	-	25	3926	c.3696C>G	c.(3694-3696)gaC>gaG	p.D1232E	CTB-13F3.1_ENST00000608515.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.D1256E|LAMB1_ENST00000474380.1_5'Flank	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1232	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCGCCAGGATGTCTTTTATCT	0.498																																						uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(3694-3696)GAC>GAG		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						104.0	96.0	99.0					7																	107580499		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107580499G>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3696C>G	7.37:g.107580499G>C	ENSP00000222399:p.Asp1232Glu					LAMB1_uc003vev.2_Missense_Mutation_p.D1256E	p.D1232E	NM_002291	NP_002282	P07942	LAMB1_HUMAN			25	4031	-			1232			Potential.|Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.3696C>G	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	2.594	-0.294639	0.05568	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.30981	1.51;1.51	5.35	2.31	0.28768	.	.	.	.	.	T	0.12518	0.0304	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.16837	-1.0389	9	0.02654	T	1	.	7.1043	0.25354	0.2054:0.0:0.6586:0.136	.	1232;1256	P07942;G3XAI2	LAMB1_HUMAN;.	E	1256;1232	ENSP00000377191:D1256E;ENSP00000222399:D1232E	ENSP00000222399:D1232E	D	-	3	2	LAMB1	107367735	0.423000	0.25482	1.000000	0.80357	0.951000	0.60555	0.828000	0.27435	0.793000	0.33875	0.655000	0.94253	GAC		0.498	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		36	37	0	0	0	0	36	37				
CADPS2	93664	broad.mit.edu	37	7	122028668	122028668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:122028668C>T	ENST00000449022.2	-	23	3152	c.3133G>A	c.(3133-3135)Gcc>Acc	p.A1045T	CADPS2_ENST00000313070.7_Missense_Mutation_p.A999T|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.A999T|CADPS2_ENST00000334010.7_Missense_Mutation_p.A1043T|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1045	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATATCACTGGCCATTAGTTTA	0.408																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3133-3135)GCC>ACC		Ca2+-dependent activator protein for secretion 2							101.0	93.0	96.0					7																	122028668		1894	4104	5998	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122028668C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3133G>A	7.37:g.122028668C>T	ENSP00000398481:p.Ala1045Thr					CADPS2_uc011knx.1_Missense_Mutation_p.A420T|CADPS2_uc003vkg.3_Missense_Mutation_p.A699T|CADPS2_uc010lkq.2_Missense_Mutation_p.A999T	p.A1045T	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			22	3296	-			1045			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3133G>A	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.3|23.3|23.3	4.394359|4.394359|4.394359	0.83011|0.83011|0.83011	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721|ENST00000462699	T;T;T;T|.|.	0.31510|.|.	1.49;1.49;1.49;1.49|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	Munc13 homology 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.70911|0.70911|.	0.3278|0.3278|.	L|L|L	0.49455|0.49455|0.49455	1.56|1.56|1.56	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;P|.|.	0.76494|.|.	0.999;0.83;0.999;0.869|.|.	D;P;D;P|.|.	0.81914|.|.	0.995;0.474;0.995;0.475|.|.	T|T|.	0.65944|0.65944|.	-0.6045|-0.6045|.	10|5|.	0.45353|.|.	T|.|.	0.12|.|.	-12.1521|-12.1521|-12.1521	19.7959|19.7959|19.7959	0.96481|0.96481|0.96481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1049;999;1045;999|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	T|D|X	218;999;1043;1050;966;999;1045|647|238	ENSP00000325581:A999T;ENSP00000333940:A1043T;ENSP00000400401:A999T;ENSP00000398481:A1045T|.|.	ENSP00000325581:A999T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	CADPS2|CADPS2|CADPS2	121815904|121815904|121815904	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	3.857000|3.857000|3.857000	0.55972|0.55972|0.55972	2.689000|2.689000|2.689000	0.91719|0.91719|0.91719	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GGC|TGG		0.408	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		6	7	0	0	0	0	6	7				
OR6V1	346517	broad.mit.edu	37	7	142750110	142750110	+	Silent	SNP	C	C	A	rs373251485		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr7:142750110C>A	ENST00000418316.1	+	1	694	c.673C>A	c.(673-675)Cgg>Agg	p.R225R		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CACTGTGCTGCGGATCCCCTC	0.532																																						uc011ksv.1		NA																	0				ovary(1)	1						c.(673-675)CGG>AGG		olfactory receptor, family 6, subfamily V,							132.0	137.0	135.0					7																	142750110		2040	4192	6232	SO:0001819	synonymous_variant	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750110C>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.673C>A	7.37:g.142750110C>A							p.R225R	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	673	+	Melanoma(164;0.059)		225			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	c.673C>A	CCDS47728.1																																																																																				0.532	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			55	63	1	0	2.12e-23	3.04e-23	55	63				
CEBPD	1052	broad.mit.edu	37	8	48649939	48649939	+	Silent	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:48649939C>A	ENST00000408965.3	-	1	1709	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	248	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.		R -> W (in dbSNP:rs34948549).		transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TGAAGAACTGCCGGAGGCCGG	0.687																																					GBM(26;131 685 21356 28665)	uc003xqh.1		NA																	0					0						c.(742-744)CGG>CGT		CCAAT/enhancer binding protein delta							7.0	9.0	9.0					8																	48649939		2045	4168	6213	SO:0001819	synonymous_variant	1052				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:48649939C>A		CCDS6142.1	8p11.2-p11.1	2013-01-10				ENSG00000221869		"""basic leucine zipper proteins"""	1835	protein-coding gene	gene with protein product		116898				1840554, 1884998	Standard	NM_005195		Approved	CRP3, CELF, C/EBP-delta, NF-IL6-beta	uc003xqh.1	P49716		ENST00000408965.3:c.744G>T	8.37:g.48649939C>A						KIAA0146_uc003xqg.1_Intron	p.R248R	NM_005195	NP_005186	P49716	CEBPD_HUMAN			1	788	-		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)	248			Leucine-zipper.		Q14937|Q2M2X9	Silent	SNP	ENST00000408965.3	37	c.744G>T	CCDS6142.1																																																																																				0.687	CEBPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368448.2	NM_005195		11	30	1	0	1.59e-06	1.86e-06	11	30				
ARFGEF1	10565	broad.mit.edu	37	8	68184172	68184172	+	Splice_Site	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:68184172C>A	ENST00000262215.3	-	10	1727		c.e10-1			NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATGAGACCTAAAATGTAA	0.318																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.e10-1		brefeldin A-inhibited guanine							41.0	42.0	42.0					8																	68184172		2203	4298	6501	SO:0001630	splice_region_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68184172C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1338-1G>T	8.37:g.68184172C>A							p.K446_splice	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1728	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)						Q9NV46|Q9UFV2|Q9UNL0	Splice_Site	SNP	ENST00000262215.3	37	c.1338_splice	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.490985	0.84962	.	.	ENSG00000066777	ENST00000262215	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3935	0.94596	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGEF1	68346726	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.409000	0.80053	2.584000	0.87258	0.585000	0.79938	.		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	Intron	12	13	1	0	6.4e-05	7.18e-05	12	13				
INTS8	55656	broad.mit.edu	37	8	95863869	95863869	+	Silent	SNP	A	A	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:95863869A>G	ENST00000523731.1	+	13	1729	c.1596A>G	c.(1594-1596)ttA>ttG	p.L532L	INTS8_ENST00000447247.1_Silent_p.L532L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	532					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAATTGAATTACATGGTATGA	0.363																																						uc003yhb.2		NA																	0					0						c.(1594-1596)TTA>TTG		integrator complex subunit 8							100.0	102.0	101.0					8																	95863869		2203	4300	6503	SO:0001819	synonymous_variant	55656				snRNA processing	integrator complex	protein binding	g.chr8:95863869A>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1596A>G	8.37:g.95863869A>G						INTS8_uc003yha.1_Silent_p.L532L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.L359L	p.L532L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			13	1722	+	Breast(36;1.05e-06)		532					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	c.1596A>G	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	A	9.376	1.071715	0.20147	.	.	ENSG00000164941	ENST00000520526	.	.	.	4.98	1.19	0.21007	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	-19.6532	3.6694	0.08268	0.4211:0.0:0.399:0.1798	.	.	.	.	C	354	.	.	Y	+	2	0	INTS8	95933045	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.586000	0.23894	0.230000	0.21059	0.533000	0.62120	TAC		0.363	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		19	45	0	0	0	0	19	45				
RIMS2	9699	broad.mit.edu	37	8	105026790	105026790	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:105026790G>T	ENST00000436393.2	+	17	2742	c.2501G>T	c.(2500-2502)gGa>gTa	p.G834V	RIMS2_ENST00000507740.1_Missense_Mutation_p.G908V|RIMS2_ENST00000262231.10_Missense_Mutation_p.G933V|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1094V			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1156	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTCGCAGGACGAAGGGGC	0.438										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2500-2502)GGA>GTA		regulating synaptic membrane exocytosis 2							74.0	79.0	77.0					8																	105026790		1922	4116	6038	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026790G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2501G>T	8.37:g.105026790G>T	ENSP00000390665:p.Gly834Val	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.G1094V|RIMS2_uc003ylw.2_Missense_Mutation_p.G908V|RIMS2_uc003ylq.2_Missense_Mutation_p.G908V|RIMS2_uc003ylr.2_Missense_Mutation_p.G933V	p.G834V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2742	+			1156					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2501G>T		.	.	.	.	.	.	.	.	.	.	G	16.32	3.091156	0.55968	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.23950	1.88;2.58;2.27;2.04;2.18;2.33	5.63	4.75	0.60458	.	.	.	.	.	T	0.40932	0.1137	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.978;1.0;0.999;1.0	D;P;D;D;D	0.79108	0.969;0.762;0.992;0.987;0.992	T	0.32107	-0.9919	9	0.59425	D	0.04	.	15.998	0.80265	0.0:0.0:0.8643:0.1357	.	1156;834;933;908;1094	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	V	1094;1131;1094;1156;933;908;908;834	ENSP00000427018:G1094V;ENSP00000384892:G1094V;ENSP00000262231:G933V;ENSP00000423559:G908V;ENSP00000386228:G908V;ENSP00000390665:G834V	ENSP00000262231:G933V	G	+	2	0	RIMS2	105095966	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.052000	0.71080	1.362000	0.46000	0.591000	0.81541	GGA		0.438	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		21	26	1	0	4.63e-17	6.5e-17	21	26				
COL22A1	169044	broad.mit.edu	37	8	139890335	139890335	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr8:139890335G>A	ENST00000303045.6	-	3	762	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R106W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	106	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCGAGACGCCGGGCAGCCGCC	0.716										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(316-318)CGG>TGG		collagen, type XXII, alpha 1							15.0	17.0	16.0					8																	139890335		2186	4261	6447	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890335G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.316C>T	8.37:g.139890335G>A	ENSP00000303153:p.Arg106Trp	HNSCC(7;0.00092)					p.R106W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	763	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		106			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.316C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581006	0.46006	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.79554	-1.28;-1.28	5.28	-0.464	0.12160	von Willebrand factor, type A (3);	0.162158	0.28865	U	0.013899	D	0.85831	0.5788	M	0.84585	2.705	0.31443	N	0.671772	D	0.71674	0.998	P	0.57283	0.817	D	0.84958	0.0875	9	.	.	.	.	10.149	0.42782	0.0:0.3599:0.3933:0.2467	.	106	Q8NFW1	COMA1_HUMAN	W	106	ENSP00000303153:R106W;ENSP00000387655:R106W	.	R	-	1	2	COL22A1	139959517	0.002000	0.14202	0.007000	0.13788	0.155000	0.21991	0.404000	0.20999	-0.093000	0.12396	0.585000	0.79938	CGG		0.716	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		16	4	0	0	0	0	16	4				
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512																																						uc003zgw.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1393-1395)TCT>TGT		doublesex and mab-3 related transcription factor							109.0	108.0	109.0					9																	990980		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990980C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1394C>G	9.37:g.990980C>G	ENSP00000190165:p.Ser465Cys						p.S465C	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1432	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	465					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1394C>G	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310284	0.60414	.	.	ENSG00000064218	ENST00000190165	T	0.37235	1.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55573	-0.8120	10	0.87932	D	0	-22.0637	18.7972	0.91999	0.0:1.0:0.0:0.0	.	465	Q9NQL9	DMRT3_HUMAN	C	465	ENSP00000190165:S465C	ENSP00000190165:S465C	S	+	2	0	DMRT3	980980	1.000000	0.71417	0.942000	0.38095	0.693000	0.40251	7.253000	0.78320	2.424000	0.82194	0.655000	0.94253	TCT		0.512	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		32	39	0	0	0	0	32	39				
TRPM6	140803	broad.mit.edu	37	9	77403655	77403655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:77403655C>T	ENST00000360774.1	-	20	2779	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	TRPM6_ENST00000361255.3_Missense_Mutation_p.A843T|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A843T|TRPM6_ENST00000451710.3_Missense_Mutation_p.A848T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A848T	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	848					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCAAATACGCCATCTGTGAG	0.532																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2542-2544)GCG>ACG		transient receptor potential cation channel,							103.0	81.0	88.0					9																	77403655		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77403655C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2542G>A	9.37:g.77403655C>T	ENSP00000354006:p.Ala848Thr					TRPM6_uc004ajk.1_Missense_Mutation_p.A843T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron	p.A848T	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			20	2780	-			848			Helical; (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2542G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283742	0.80803	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.68	3.85	0.44370	.	0.274240	0.40728	N	0.001029	D	0.83667	0.5304	M	0.72353	2.195	0.41316	D	0.987141	P;P	0.43826	0.726;0.818	B;P	0.47299	0.283;0.543	T	0.83310	-0.0023	10	0.87932	D	0	.	8.572	0.33576	0.1248:0.7416:0.0:0.1336	.	848;843	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	T	848;848;843;843;848;511;511	ENSP00000354006:A848T;ENSP00000407341:A848T;ENSP00000396672:A843T;ENSP00000354962:A843T;ENSP00000366060:A848T	ENSP00000309693:A511T	A	-	1	0	TRPM6	76593475	0.997000	0.39634	0.900000	0.35374	0.976000	0.68499	3.212000	0.51145	0.769000	0.33313	0.563000	0.77884	GCG		0.532	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	30	0	0	0	0	6	30				
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:95795123C>A	ENST00000375482.3	+	16	2249	c.1753C>A	c.(1753-1755)Ctg>Atg	p.L585M	FGD3_ENST00000538555.1_Missense_Mutation_p.L188M|FGD3_ENST00000337352.6_Missense_Mutation_p.L585M|FGD3_ENST00000416701.2_Missense_Mutation_p.L585M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637																																						uc004asw.2		NA																	0				ovary(1)|breast(1)	2						c.(1753-1755)CTG>ATG		FYVE, RhoGEF and PH domain containing 3							88.0	101.0	97.0					9																	95795123		2062	4195	6257	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95795123C>A	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1753C>A	9.37:g.95795123C>A	ENSP00000364631:p.Leu585Met					FGD3_uc004asx.2_Missense_Mutation_p.L585M|FGD3_uc004asz.2_Missense_Mutation_p.L585M|FGD3_uc011luc.1_Missense_Mutation_p.L188M	p.L585M	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			16	2381	+			585			FYVE-type.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1753C>A	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374662	0.42105	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.54	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.30501	N	0.009500	T	0.80412	0.4618	L	0.37850	1.14	0.35260	D	0.779458	D;D	0.76494	0.999;0.98	D;D	0.71870	0.975;0.91	D	0.83921	0.0301	10	0.51188	T	0.08	.	10.5232	0.44931	0.0:0.9038:0.0:0.0962	.	585;585	F8W7P2;Q5JSP0	.;FGD3_HUMAN	M	585;585;585;188	ENSP00000364631:L585M;ENSP00000413833:L585M;ENSP00000336914:L585M;ENSP00000442560:L188M	ENSP00000336914:L585M	L	+	1	2	FGD3	94834944	0.991000	0.36638	0.782000	0.31804	0.106000	0.19336	3.106000	0.50322	1.052000	0.40392	0.561000	0.74099	CTG		0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		42	112	1	0	2.45e-15	3.37e-15	42	112				
TBC1D2	55357	broad.mit.edu	37	9	100963875	100963875	+	Missense_Mutation	SNP	G	G	T	rs148540803	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:100963875G>T	ENST00000375064.1	-	11	2381	c.2343C>A	c.(2341-2343)caC>caA	p.H781Q	TBC1D2_ENST00000375066.5_Missense_Mutation_p.H781Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.H321Q|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H563Q	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	781	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATCCACGTGGTGCTGCCCCA	0.607																																						uc011lvb.1		NA																	0				ovary(3)	3						c.(2341-2343)CAC>CAA		TBC1 domain family, member 2							120.0	97.0	105.0					9																	100963875		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100963875G>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2343C>A	9.37:g.100963875G>T	ENSP00000364205:p.His781Gln					TBC1D2_uc004ayp.2_Missense_Mutation_p.H321Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.H781Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.H563Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.H781Q	p.H781Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	11	2523	-		Myeloproliferative disorder(762;0.0255)	781			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.2343C>A		.	.	.	.	.	.	.	.	.	.	G	10.68	1.417900	0.25552	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.27890	2.0;2.0;2.0;1.64	4.85	2.95	0.34219	Rab-GAP/TBC domain (4);	0.704281	0.14350	N	0.325142	T	0.19327	0.0464	L	0.31157	0.91	0.09310	N	0.999999	B;B	0.13145	0.007;0.006	B;B	0.12837	0.008;0.005	T	0.14952	-1.0454	10	0.34782	T	0.22	.	4.8135	0.13354	0.2502:0.1871:0.5627:0.0	.	781;781	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	781;781;563;321	ENSP00000364205:H781Q;ENSP00000364207:H781Q;ENSP00000341567:H563Q;ENSP00000364203:H321Q	ENSP00000341567:H563Q	H	-	3	2	TBC1D2	100003696	0.990000	0.36364	0.823000	0.32752	0.915000	0.54546	1.931000	0.40134	1.008000	0.39264	0.555000	0.69702	CAC		0.607	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		19	54	1	0	1.96e-10	2.52e-10	19	54				
GRIN3A	116443	broad.mit.edu	37	9	104499694	104499694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:104499694C>T	ENST00000361820.3	-	1	1168	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	190					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACCCCTTGCACCACCACGGTA	0.587																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(568-570)GTG>ATG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						95.0	88.0	90.0					9																	104499694		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499694C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.568G>A	9.37:g.104499694C>T	ENSP00000355155:p.Val190Met					GRIN3A_uc004bbq.1_Missense_Mutation_p.V190M	p.V190M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1169	-		Acute lymphoblastic leukemia(62;0.0568)	190			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.568G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152325	0.78001	.	.	ENSG00000198785	ENST00000361820	D	0.86097	-2.07	5.3	5.3	0.74995	.	0.071387	0.56097	D	0.000037	D	0.89928	0.6857	L	0.52573	1.65	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	D	0.90369	0.4379	10	0.59425	D	0.04	.	18.966	0.92697	0.0:1.0:0.0:0.0	.	190	Q8TCU5	NMD3A_HUMAN	M	190	ENSP00000355155:V190M	ENSP00000355155:V190M	V	-	1	0	GRIN3A	103539515	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.328000	0.79160	2.480000	0.83734	0.655000	0.94253	GTG		0.587	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			17	45	0	0	0	0	17	45				
FKTN	2218	broad.mit.edu	37	9	108366711	108366711	+	Silent	SNP	T	T	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:108366711T>A	ENST00000223528.2	+	5	709	c.585T>A	c.(583-585)atT>atA	p.I195I	FKTN_ENST00000357998.5_Silent_p.I195I|FKTN_ENST00000602661.1_Silent_p.I195I|FKTN_ENST00000448551.2_Silent_p.I195I|FKTN_ENST00000540160.1_Silent_p.I195I	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	195					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAGAACACATTGACAGGAAAT	0.443																																						uc004bcr.2		NA																	0				breast(2)|ovary(1)	3						c.(583-585)ATT>ATA		fukutin							97.0	89.0	92.0					9																	108366711		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108366711T>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.585T>A	9.37:g.108366711T>A						FKTN_uc011lvx.1_Silent_p.I195I|FKTN_uc004bcs.2_Silent_p.I195I|FKTN_uc011lvy.1_Silent_p.I195I|FKTN_uc010mtm.2_Silent_p.I63I	p.I195I	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			6	801	+			195			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.585T>A	CCDS6766.1																																																																																				0.443	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		16	34	0	0	0	0	16	34				
SVEP1	79987	broad.mit.edu	37	9	113169643	113169643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:113169643C>A	ENST00000401783.2	-	38	8573	c.8237G>T	c.(8236-8238)gGa>gTa	p.G2746V	SVEP1_ENST00000297826.5_Missense_Mutation_p.G672V|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2723V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2746	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGAATGTGTCCAGGTTTACA	0.443																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(8236-8238)GGA>GTA		polydom							79.0	83.0	82.0					9																	113169643		1989	4156	6145	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169643C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8237G>T	9.37:g.113169643C>A	ENSP00000384917:p.Gly2746Val					SVEP1_uc010mty.2_Missense_Mutation_p.G672V	p.G2746V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8574	-			2746			Sushi 22.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8237G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553570	0.45487	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.77358	-1.09;-1.09;-1.09	5.87	5.87	0.94306	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.92818	0.7716	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94424	0.7643	10	0.87932	D	0	.	20.2119	0.98289	0.0:1.0:0.0:0.0	.	2746	Q4LDE5	SVEP1_HUMAN	V	2746;2723;672;418	ENSP00000384917:G2746V;ENSP00000363593:G2723V;ENSP00000297826:G672V	ENSP00000297826:G672V	G	-	2	0	SVEP1	112209464	1.000000	0.71417	0.510000	0.27712	0.157000	0.22087	7.624000	0.83124	2.784000	0.95788	0.585000	0.79938	GGA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	65	1	0	1.26e-06	1.5e-06	28	65				
FCN2	2220	broad.mit.edu	37	9	137772670	137772670	+	Start_Codon_SNP	SNP	G	G	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:137772670G>T	ENST00000291744.6	+	1	13	c.3G>T	c.(1-3)atG>atT	p.M1I	FCN2_ENST00000350339.2_Start_Codon_SNP_p.M1I	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	1					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAGAAGAGATGGAGCTGGACA	0.592																																						uc004cfg.1		NA																	0				large_intestine(1)	1						c.(1-3)ATG>ATT		ficolin 2 isoform a precursor							41.0	47.0	45.0					9																	137772670		2203	4300	6503	SO:0001582	initiator_codon_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772670G>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.3G>T	9.37:g.137772670G>T	ENSP00000291744:p.Met1Ile					FCN2_uc004cfh.1_Missense_Mutation_p.M1I	p.M1I	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	13	+		Myeloproliferative disorder(178;0.0333)	1					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.3G>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908481	0.17833	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.54866	0.55;0.81	0.755	-0.282	0.12878	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.24795	N	0.992735	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.29822	-0.9999	7	0.66056	D	0.02	.	.	.	.	.	1;1	Q15485-2;Q15485	.;FCN2_HUMAN	I	1	ENSP00000291741:M1I;ENSP00000291744:M1I	ENSP00000291744:M1I	M	+	3	0	FCN2	136912491	0.000000	0.05858	0.033000	0.17914	0.542000	0.35054	0.259000	0.18405	-0.146000	0.11274	0.411000	0.27672	ATG		0.592	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	Missense_Mutation	14	29	1	0	6.32e-08	7.68e-08	14	29				
PNPLA7	375775	broad.mit.edu	37	9	140438232	140438232	+	Silent	SNP	A	A	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:140438232A>C	ENST00000277531.4	-	4	420	c.234T>G	c.(232-234)acT>acG	p.T78T	AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Silent_p.T103T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	78					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGGCAGGGCAGTGTTCTCCA	0.622																																						uc004cnf.2		NA																	0				skin(1)	1						c.(232-234)ACT>ACG		patatin-like phospholipase domain containing 7							83.0	76.0	78.0					9																	140438232		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140438232A>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.234T>G	9.37:g.140438232A>C						PNPLA7_uc010ncj.1_Silent_p.T103T	p.T78T	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	4	571	-	all_cancers(76;0.126)		78					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.234T>G	CCDS7045.1																																																																																				0.622	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		21	64	0	0	0	0	21	64				
BRWD3	254065	broad.mit.edu	37	X	79999656	79999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:79999656C>A	ENST00000373275.4	-	8	904	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	230					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCATAGTTAACAGCCATGTCA	0.448																																						uc004edt.2		NA																	0				ovary(4)	4						c.(688-690)GTT>TTT		bromodomain and WD repeat domain containing 3							129.0	111.0	117.0					X																	79999656		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999656C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.688G>T	X.37:g.79999656C>A	ENSP00000362372:p.Val230Phe					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.V59F|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.V230F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	951	-			230			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.688G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460451	0.84317	.	.	ENSG00000165288	ENST00000373275	T	0.51817	0.69	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.073876	0.53938	D	0.000054	T	0.23965	0.0580	N	0.00729	-1.24	0.58432	D	0.999999	B	0.30664	0.289	B	0.40477	0.33	T	0.31724	-0.9933	9	.	.	.	-14.4362	16.6562	0.85229	0.0:1.0:0.0:0.0	.	230	Q6RI45	BRWD3_HUMAN	F	230	ENSP00000362372:V230F	.	V	-	1	0	BRWD3	79886312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.929000	0.70096	2.193000	0.70182	0.415000	0.27848	GTT		0.448	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		23	17	1	0	6.36e-07	7.58e-07	23	17				
POU3F4	5456	broad.mit.edu	37	X	82764275	82764275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:82764275C>T	ENST00000373200.2	+	1	1007	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	315					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GGCAGACAGCCTCCAGTTGGA	0.557																																						uc004eeg.2		NA																	0				ovary(1)	1						c.(943-945)CTC>TTC		POU domain, class 3, transcription factor 4							33.0	26.0	29.0					X																	82764275		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764275C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.943C>T	X.37:g.82764275C>T	ENSP00000362296:p.Leu315Phe						p.L315F	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	1007	+			315			Homeobox.		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.943C>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172871	0.78452	.	.	ENSG00000196767	ENST00000373200	D	0.98264	-4.83	5.07	5.07	0.68467	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000002	D	0.99354	0.9773	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98556	1.0639	10	0.87932	D	0	.	17.4614	0.87620	0.0:1.0:0.0:0.0	.	315	P49335	PO3F4_HUMAN	F	315	ENSP00000362296:L315F	ENSP00000362296:L315F	L	+	1	0	POU3F4	82650931	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.579000	0.82511	2.244000	0.73946	0.525000	0.51046	CTC		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		11	9	0	0	0	0	11	9				
DCX	1641	broad.mit.edu	37	X	110653366	110653366	+	Silent	SNP	C	C	G			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:110653366C>G	ENST00000338081.3	-	2	675	c.504G>C	c.(502-504)ctG>ctC	p.L168L	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.L87L|DCX_ENST00000356220.3_Silent_p.L87L|DCX_ENST00000356915.2_Silent_p.L87L|DCX_ENST00000371993.2_Silent_p.L87L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	168	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGATCGCGTCAGGTCAGCCA	0.527																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(502-504)CTG>CTC		doublecortin isoform a							229.0	168.0	189.0					X																	110653366		2203	4300	6503	SO:0001819	synonymous_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653366C>G	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.504G>C	X.37:g.110653366C>G						DCX_uc011msv.1_Silent_p.L168L|DCX_uc004epe.2_Silent_p.L87L|DCX_uc004epf.2_Silent_p.L87L|DCX_uc004epg.2_Silent_p.L87L	p.L168L	NM_000555	NP_000546	O43602	DCX_HUMAN			2	676	-			168			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Silent	SNP	ENST00000338081.3	37	c.504G>C	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	C	8.266	0.812239	0.16537	.	.	ENSG00000077279	ENST00000358070	.	.	.	5.5	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8409	0.35142	0.0:0.6457:0.2776:0.0766	.	.	.	.	S	160	.	.	X	-	2	2	DCX	110540022	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.001000	0.29783	1.252000	0.44001	0.600000	0.82982	TGA		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		51	27	0	0	0	0	51	27				
TMEM255A	55026	broad.mit.edu	37	X	119410744	119410744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:119410744T>C	ENST00000309720.5	-	8	866	c.743A>G	c.(742-744)gAc>gGc	p.D248G	TMEM255A_ENST00000371369.4_Missense_Mutation_p.D224G|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D84G	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	248						integral component of membrane (GO:0016021)											CCTTACCATGTCCTTAAAGCC	0.507																																						uc004eso.3		NA																	0				lung(1)|breast(1)	2						c.(742-744)GAC>GGC		hypothetical protein LOC55026 isoform 1							132.0	98.0	110.0					X																	119410744		2203	4300	6503	SO:0001583	missense	55026					integral to membrane		g.chrX:119410744T>C	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.743A>G	X.37:g.119410744T>C	ENSP00000310110:p.Asp248Gly					FAM70A_uc004esp.3_Missense_Mutation_p.D224G|FAM70A_uc010nqo.2_Intron	p.D248G	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			8	970	-			248					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.743A>G	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504588	0.85176	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.60171	0.21;0.21;0.21	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.993;0.997	T	0.80768	-0.1235	10	0.72032	D	0.01	-16.2322	13.3151	0.60403	0.0:0.0:0.0:1.0	.	224;248	B1APR4;Q5JRV8	.;FA70A_HUMAN	G	248;224;84	ENSP00000310110:D248G;ENSP00000360420:D224G;ENSP00000360403:D84G	ENSP00000310110:D248G	D	-	2	0	FAM70A	119294772	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	1.737000	0.51674	0.481000	0.45027	GAC		0.507	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		26	10	0	0	0	0	26	10				
TENM1	10178	broad.mit.edu	37	X	123515059	123515059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:123515059T>C	ENST00000371130.3	-	31	7568	c.7505A>G	c.(7504-7506)aAt>aGt	p.N2502S	TENM1_ENST00000422452.2_Missense_Mutation_p.N2509S|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2502					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCGTCCATCATTGTATCGGGG	0.463																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7504-7506)AAT>AGT		odz, odd Oz/ten-m homolog 1 isoform 3							135.0	130.0	132.0					X																	123515059		2202	4298	6500	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123515059T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7505A>G	X.37:g.123515059T>C	ENSP00000360171:p.Asn2502Ser					ODZ1_uc011muj.1_Missense_Mutation_p.N2508S|ODZ1_uc010nqy.2_Missense_Mutation_p.N2509S	p.N2502S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7569	-			2502			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7505A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	0.056	-1.237225	0.01493	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84660	-1.88;-1.84	5.83	1.1	0.20463	.	0.429903	0.28921	N	0.013708	T	0.64114	0.2569	N	0.11927	0.2	0.23568	N	0.997391	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48969	-0.8987	10	0.06236	T	0.91	.	6.3598	0.21422	0.0:0.5328:0.1624:0.3048	.	2508;2509;2502	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	2502;2509	ENSP00000360171:N2502S;ENSP00000403954:N2509S	ENSP00000360171:N2502S	N	-	2	0	ODZ1	123342740	0.968000	0.33430	0.567000	0.28434	0.996000	0.88848	0.223000	0.17719	-0.185000	0.10550	0.486000	0.48141	AAT		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		60	32	0	0	0	0	60	32				
ATP11C	286410	broad.mit.edu	37	X	138899028	138899028	+	Silent	SNP	G	G	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:138899028G>A	ENST00000327569.3	-	4	419	c.321C>T	c.(319-321)atC>atT	p.I107I	ATP11C_ENST00000359686.2_Silent_p.I107I|ATP11C_ENST00000361648.2_Silent_p.I107I|ATP11C_ENST00000370543.1_Silent_p.I107I|ATP11C_ENST00000370557.1_Silent_p.I104I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	107					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGCTTGATGGCTGTAA	0.368																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(319-321)ATC>ATT		ATPase, class VI, type 11C isoform a							74.0	66.0	69.0					X																	138899028		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138899028G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.321C>T	X.37:g.138899028G>A						ATP11C_uc004fba.2_Silent_p.I107I	p.I107I	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			4	420	-	Acute lymphoblastic leukemia(192;0.000127)		107			Helical; (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.321C>T	CCDS14668.1																																																																																				0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		17	21	0	0	0	0	17	21				
SPANXN1	494118	broad.mit.edu	37	X	144329127	144329127	+	Silent	SNP	C	C	T			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chrX:144329127C>T	ENST00000370493.3	+	1	780	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	7										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTTCAAGCATCAATGGGG	0.448																																						uc004fcb.2		NA																	0					0						c.(19-21)AGC>AGT		SPANX-N1 protein							272.0	232.0	246.0					X																	144329127		2203	4298	6501	SO:0001819	synonymous_variant	494118							g.chrX:144329127C>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.21C>T	X.37:g.144329127C>T							p.S7S	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			1	21	+	Acute lymphoblastic leukemia(192;6.56e-05)		7						Silent	SNP	ENST00000370493.3	37	c.21C>T	CCDS35421.1																																																																																				0.448	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		46	41	0	0	0	0	46	41				
TMEM79	84283	broad.mit.edu	37	1	156261302	156261302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr1:156261302delG	ENST00000405535.2	+	4	1269	c.1098delG	c.(1096-1098)gagfs	p.E366fs	TMEM79_ENST00000295694.5_Frame_Shift_Del_p.E366fs|TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank|TMEM79_ENST00000357501.2_Frame_Shift_Del_p.A128fs	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	366					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGGAGCCGGAGCGCATGCTCA	0.672																																						uc010phi.1		NA																	0				central_nervous_system(1)	1						c.(1096-1098)GAGfs		transmembrane protein 79							113.0	109.0	110.0					1																	156261302		2203	4300	6503	SO:0001589	frameshift_variant	84283					integral to membrane		g.chr1:156261302delG	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1098delG	1.37:g.156261302delG	ENSP00000384748:p.Glu366fs					TMEM79_uc001fod.2_Frame_Shift_Del_p.E207fs|TMEM79_uc009wrw.2_Frame_Shift_Del_p.E366fs|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron	p.E366fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			4	1294	+	Hepatocellular(266;0.158)		366					B2RE22|D3DVB8	Frame_Shift_Del	DEL	ENST00000405535.2	37	c.1098delG	CCDS1138.1																																																																																				0.672	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		52	142	NA	NA	NA	NA	52	142	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47598968	47598971	+	Frame_Shift_Del	DEL	ATGA	ATGA	-	rs149725159		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:47598968_47598971delATGA	ENST00000526005.1	-	2	734_737	c.581_584delTCAT	c.(580-585)atcatcfs	p.II194fs	NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000450908.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.II219fs|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.II210fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.II194fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.II243fs|NDUFS3_ENST00000534208.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	194	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTACCCGAGATGATATCTGTGAG	0.5																																						uc001nfx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(580-585)ATCATCfs		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001589	frameshift_variant	55709							g.chr11:47598968_47598971delATGA	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.581_584delTCAT	11.37:g.47598968_47598971delATGA	ENSP00000433340:p.Ile194fs					NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Frame_Shift_Del_p.I219fs|KBTBD4_uc001nfz.2_Frame_Shift_Del_p.I210fs|KBTBD4_uc001nfy.2_Frame_Shift_Del_p.I194fs|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	p.I194fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			2	752_755	-			194_195	I -> T (in Ref. 1; BAA91616).		BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.581_584delTCAT	CCDS7940.1																																																																																				0.500	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		25	76	NA	NA	NA	NA	25	76	---	---	---	---
VPS11	55823	broad.mit.edu	37	11	118949031	118949033	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr11:118949031_118949033delAGA	ENST00000300793.6	+	12	1949_1951	c.1907_1909delAGA	c.(1906-1911)gagaag>gag	p.K637del	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	638					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGGCCCACGAGAAGGATCCACA	0.562																																						uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1909-1914)GAGAAG>GAG		vacuolar protein sorting 11																																				SO:0001651	inframe_deletion	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949031_118949033delAGA	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1907_1909delAGA	11.37:g.118949031_118949033delAGA	ENSP00000475301:p.Lys637del					VPS11_uc010ryy.1_In_Frame_Del_p.K484del	p.K638del	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	12	1952_1954	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	638					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	In_Frame_Del	DEL	ENST00000300793.6	37	c.1910_1912delAGA																																																																																					0.562	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		37	225	NA	NA	NA	NA	37	225	---	---	---	---
CD27	939	broad.mit.edu	37	12	6559460	6559466	+	Frame_Shift_Del	DEL	TCGGTCG	TCGGTCG	-	rs150578547	byFrequency	TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:6559460_6559466delTCGGTCG	ENST00000266557.3	+	3	619_625	c.390_396delTCGGTCG	c.(388-396)gctcggtcgfs	p.ARS130fs	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000266556.7_5'Flank|TAPBPL_ENST00000544021.1_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	130					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.R131W(1)|p.S132S(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CGCTGACCGCTCGGTCGTCTCAGGCCC	0.585																																						uc001qod.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(2)		0						c.(388-396)GCTCGGTCGfs		tumor necrosis factor receptor superfamily,																																				SO:0001589	frameshift_variant	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6559460_6559466delTCGGTCG	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.390_396delTCGGTCG	12.37:g.6559460_6559466delTCGGTCG	ENSP00000266557:p.Ala130fs					LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'UTR|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	p.A130fs	NM_001242	NP_001233	P26842	CD27_HUMAN			3	601_607	+			130_132			Extracellular (Potential).|TNFR-Cys 3.		B2RDZ0	Frame_Shift_Del	DEL	ENST00000266557.3	37	c.390_396delTCGGTCG	CCDS8545.1																																																																																				0.585	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			17	56	NA	NA	NA	NA	17	56	---	---	---	---
DPPA3	359787	broad.mit.edu	37	12	7864234	7864234	+	Frame_Shift_Del	DEL	C	C	-	rs201819455		TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:7864234delC	ENST00000345088.2	+	1	185	c.68delC	c.(67-69)tccfs	p.S23fs		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	23					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGAAAATTCCCGGGACGAT	0.468																																						uc001qtf.2		NA																	0					0						c.(67-69)TCCfs		stella																																				SO:0001589	frameshift_variant	359787					cytoplasm|nucleus		g.chr12:7864234delC	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.68delC	12.37:g.7864234delC	ENSP00000339250:p.Ser23fs						p.S23fs	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	1	146	+			23					Q0P5U3|Q6JZS6	Frame_Shift_Del	DEL	ENST00000345088.2	37	c.68delC	CCDS8582.1																																																																																				0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		13	19	NA	NA	NA	NA	13	19	---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124132650	124132650	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr12:124132650delA	ENST00000543341.2	+	4	372	c.341delA	c.(340-342)gagfs	p.E114fs	GTF2H3_ENST00000228955.7_Frame_Shift_Del_p.E73fs	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	114					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATTGTTGAAGAGATTAAAGAT	0.348								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	uc001ufo.1		NA																	0					0						c.(340-342)GAGfs	NER	general transcription factor IIH, polypeptide 3,							54.0	56.0	55.0					12																	124132650		2203	4300	6503	SO:0001589	frameshift_variant	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124132650delA	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.341delA	12.37:g.124132650delA	ENSP00000445162:p.Glu114fs					GTF2H3_uc010tau.1_Frame_Shift_Del_p.E73fs	p.E114fs	NM_001516	NP_001507	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	4	367	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		114					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Frame_Shift_Del	DEL	ENST00000543341.2	37	c.341delA	CCDS9252.1																																																																																				0.348	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		25	45	NA	NA	NA	NA	25	45	---	---	---	---
CPNE2	221184	broad.mit.edu	37	16	57144698	57144698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr16:57144698delC	ENST00000535318.2	+	3	405	c.44delC	c.(43-45)gccfs	p.A15fs	CPNE2_ENST00000290776.8_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.A15fs|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	15	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCGGGGGCAGCCCCCATGGGC	0.642																																						uc002eks.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(43-45)GCCfs		copine II							38.0	34.0	36.0					16																	57144698		2198	4299	6497	SO:0001589	frameshift_variant	221184							g.chr16:57144698delC		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.44delC	16.37:g.57144698delC	ENSP00000439018:p.Ala15fs					CPNE2_uc010cct.1_Frame_Shift_Del_p.A41fs|CPNE2_uc010ccu.1_Frame_Shift_Del_p.A15fs	p.A15fs	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			2	273	+		all_neural(199;0.224)	15			C2 1.		Q68D19|Q719H8|Q86XP9	Frame_Shift_Del	DEL	ENST00000535318.2	37	c.44delC	CCDS10774.1																																																																																				0.642	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		16	57	NA	NA	NA	NA	16	57	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17056421	17056428	+	Frame_Shift_Del	DEL	TCTCCTCA	TCTCCTCA	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr19:17056421_17056428delTCTCCTCA	ENST00000443236.1	-	22	2896_2903	c.2865_2872delTGAGGAGA	c.(2863-2874)cctgaggagaatfs	p.EEN956fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	909						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCGGCGTGATTCTCCTCAGGGTGTTTGC	0.572																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(2863-2874)CCTGAGGAGAATfs		C3 and PZP-like, alpha-2-macroglobulin domain																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17056421_17056428delTCTCCTCA	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2865_2872delTGAGGAGA	19.37:g.17056421_17056428delTCTCCTCA	ENSP00000402505:p.Glu956fs						p.P955fs	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			22	2897_2904	-			908_911					Q8NC09|Q9ULD7	Frame_Shift_Del	DEL	ENST00000443236.1	37	c.2865_2872delTGAGGAGA	CCDS42519.1																																																																																				0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		27	64	NA	NA	NA	NA	27	64	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19504093	19504093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:19504093delC	ENST00000407835.1	+	17	1740	c.1484delC	c.(1483-1485)gccfs	p.A495fs	CDC45_ENST00000263201.1_Frame_Shift_Del_p.A495fs|CDC45_ENST00000437685.2_Frame_Shift_Del_p.A527fs|CDC45_ENST00000404724.3_Frame_Shift_Del_p.A449fs			O75419	CDC45_HUMAN	cell division cycle 45	495					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGATGGCTGCCCCCCTGAGC	0.627																																						uc002zpr.2		NA																	0				lung(1)	1						c.(1483-1485)GCCfs		CDC45-like							64.0	68.0	67.0					22																	19504093		2203	4300	6503	SO:0001589	frameshift_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19504093delC	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1484delC	22.37:g.19504093delC	ENSP00000385240:p.Ala495fs					CDC45_uc011aha.1_Frame_Shift_Del_p.A527fs|CDC45_uc002zps.2_Frame_Shift_Del_p.A495fs|CDC45_uc002zpt.2_Frame_Shift_Del_p.A449fs	p.A495fs	NM_003504	NP_003495	O75419	CDC45_HUMAN			16	1560	+			495					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Frame_Shift_Del	DEL	ENST00000407835.1	37	c.1484delC	CCDS13762.1																																																																																				0.627	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		25	59	NA	NA	NA	NA	25	59	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctgfs	p.L1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721																																						uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(3718-3720)CTGfs		SH3 and multiple ankyrin repeat domains 3				32,49,3135		5,1,21,6,36,1539	10.0	11.0	11.0			3.5	1.0	22		11	90,87,6825		3,0,84,5,77,3332	no	codingComplex	SHANK3	NM_001080420.1		8,1,105,11,113,4871	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5278,2.5187,2.525			51159933	122,136,9960	1773	3829	5602	SO:0001589	frameshift_variant	85358							g.chr22:51159933delG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3630delG	22.37:g.51159933delG	ENSP00000464552:p.Leu1210fs					SHANK3_uc003bnf.1_Frame_Shift_Del_p.L687fs|SHANK3_uc010hbg.1_Frame_Shift_Del_p.L422fs	p.L1240fs	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	3720	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Del	DEL	ENST00000414786.2	37	c.3720delG																																																																																					0.721	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		4	3	NA	NA	NA	NA	4	3	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33614378	33614378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr5:33614378delC	ENST00000504830.1	-	16	2827	c.2492delG	c.(2491-2493)ggcfs	p.G831fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G746fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	831	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCAGTGGCCGTACTGCCA	0.502										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2491-2493)GGCfs		ADAM metallopeptidase with thrombospondin type 1							188.0	131.0	150.0					5																	33614378		2203	4300	6503	SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614378delC	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2492delG	5.37:g.33614378delC	ENSP00000422554:p.Gly831fs	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.G746fs	p.G831fs	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2655	-			831			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	c.2492delG	CCDS34140.1																																																																																				0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		10	22	NA	NA	NA	NA	10	22	---	---	---	---
ARID3C	138715	broad.mit.edu	37	9	34622436	34622436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:34622436delG	ENST00000378909.2	-	5	1048	c.956delC	c.(955-957)ccafs	p.P319fs	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000378913.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	319	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCTCTTCTCTGGGGGCTCCTC	0.607																																						uc011lon.1		NA																	0				ovary(1)	1						c.(955-957)CCAfs		AT rich interactive domain 3C (BRIGHT- like)							58.0	60.0	59.0					9																	34622436		2203	4300	6503	SO:0001589	frameshift_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622436delG		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.956delC	9.37:g.34622436delG	ENSP00000368189:p.Pro319fs					DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	p.P319fs	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	5	956	-	all_epithelial(49;0.102)		319			REKLES.|Pro-rich.			Frame_Shift_Del	DEL	ENST00000378909.2	37	c.956delC	CCDS35006.1																																																																																				0.607	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		21	39	NA	NA	NA	NA	21	39	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107267065	107267066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6960-01A-41D-2012-08	TCGA-CV-6960-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	750da72e-cabd-4b97-8160-8c4e39272b8b	007618bc-1555-4b26-80ba-94678bcefcc8	g.chr9:107267065_107267066insA	ENST00000334726.2	+	1	611_612	c.522_523insA	c.(523-525)aatfs	p.N175fs		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGCATCATCAATCATTTCAC	0.48																																						uc011lvm.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(520-525)ATCAATfs		olfactory receptor, family 13, subfamily F,																																				SO:0001589	frameshift_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267065_107267066insA		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.524dupA	9.37:g.107267067_107267067dupA	ENSP00000334452:p.Asn175fs						p.I174fs	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	522_523	+			174_175			Extracellular (Potential).		Q6IF50	Frame_Shift_Ins	INS	ENST00000334726.2	37	c.522_523insA	CCDS35087.1																																																																																				0.480	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			35	105	NA	NA	NA	NA	35	105	---	---	---	---
